U.S. flag

An official website of the United States government

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

Cover of GeneReviews®

GeneReviews® [Internet].

Show details

Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Druze Population

, MD and , PhD.

Author Information and Affiliations

Initial Posting: ; Last Revision: September 28, 2023.

Estimated reading time: 9 minutes

A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.

The table below includes common founder variants – here defined as three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry – in individuals of Druze ancestry. Note: (1) Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included. (2) Disorders with a carrier frequency ≤1/200 are not included.

Table.

Genetic Disorders Associated with Founder Variants Common in the Druze Population

GeneDisorderMOIDNA
Nucleotide
Change
(Alias 1)		Predicted
Protein
Change		% of Pathogenic Variants in Gene 2Carrier
Frequency		Ethnicity
(Specific
Region)		Reference
Sequences		References
ABCA4 Cone-rod dystrophy 3 (OMIM 604116)ARc.634C>Tp.Arg212Cys<100% 3UnknownDruze
(Israel)		 NM_000350​.3
NP_000341​.2 		Sharon et al [2020]
ASL Argininosuccinate lyase deficiency ARc.346C>Tp.Gln116Ter~100% 41/41Druze
(Galilee, Israel)		 NM_000048​.4
NP_000039​.2 		Falik-Zaccai et al [2008a]
c.446+1G>A
(IVS5+1G>A)		--1/40Druze
(Israel)		 NM_000048​.4 Avnat et al [2023]
ATM Ataxia-telangiectasia;
ATM-related cancer predisposition		AR
AD		c.6672_6680delGGCTCTACGinsCTCp.Met2224_Arg2227delinsIleSer~70%1/3 to 1/6Druze
(N Israel) 5		 NM_000051​.4
NP_000042​.3 		Fares et al [2004], Avnat et al [2023]
c.1339C>Tp.Arg447Ter~30%1/6 to 1/15Druze
(N Israel) 6
1/59Druze
(Israel)
ATP7B Wilson disease ARc.3649_3654delGTTCTGp.Val1217_Leu1218del<100% 3~1/28Druze
(Israel)		 NM_000053​.4
NP_000044​.2 		Kalinsky et al [1998]
BCKDHB Maple syrup urine disease ARc.1016C>TSer339Leu~88%UnknownDruze
(N Israel)		 NM_183050​.4
NP_898871​.1 		Wynn et al [2001]
CDH3 Congenital hypotrichosis with juvenile macular dystrophy (OMIM 601553)ARc.981delGp.Met327IlefsTer23<100% 3UnknownDruze
(N Israel)		 NM_001793​.6
NP_001784​.2 		Sprecher et al [2001]
CFAP418
(C8orf37)		 Retinitis pigmentosa ARc.545A>Gp.Gln182Arg~100% 41/45Druze
(Israel)		 NM_177965​.4
NP_808880​.1 		Estrada-Cuzcano et al [2012]
CPS1 Carbamoylphosphate synthetase I deficiency (See Urea Cycle Disorders Overview.)ARc.3265C>Tp.Arg1089Cys~100% 41/95Druze
(Galilee, Israel)		 NM_001875​.5
NP_001866​.2 		Falik-Zaccai et al [2008a]
CYP1B1 Primary congenital glaucoma ARc.1405C>Tp.Arg469Trp>60%UnknownDruze
(Israel)		 NM_000104​.4
NP_000095​.2 		Geyer et al [2011]
CYP27A1 Cerebrotendinous xanthomatosis ARc.355delCp.Arg119GlyfsTer24~100% 41/11 to 1/30Druze
(Yarka, Galilee,
Israel)		 NM_000784​.4
NP_000775​.1 		Leitersdorf et al [1994], Falik-Zaccai et al [2008a], DeBarber et al [2018]
DBT Maple syrup urine disease ARc.581C>Gp.Ser194Ter~100% 4UnknownDruze
(N Israel)		 NM_001918​.5
NP_001909​.4 		Chuang et al [2004]
DGUOK Deoxyguanosine kinase deficiency ARc.255delAp.Ala86ProfsTer13~100% 41/5Druze
(N Israel)		 NM_080916​.3
NP_550438​.1 		Mandel et al [2001]
DOLK Congenital disorder of glycosylation, type Im (See Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview.)ARc.1222C>Gp.His408Asp~100% 4UnknownDruze
(Galilee, Israel)		 NM_014908​.4
NP_055723​.1 		Lefeber et al [2011]
EHD1 Tubular proteinuria and deafnessARc.1192C>Tp.Arg398Trp~100% 41/196Druze
(Israel)		 NM_001282444​.2
NP_001269373​.1 		Issler et al [2022]
ERCC6 Cockayne syndrome ARc.1034_1035insTp.Lys345AsnfsTer24~100% 41/15Druze
(N Israel)		 NM_000124​.4
NP_000115​.1 		Falik-Zaccai et al [2008b]
F7 Factor VII deficiency (OMIM 227500)ARc.1109G>Tp.Cys370Phe<100% 31/40Druze
(Israel)		 NM_000131​.4
NP_000122​.1 		Fromovich-Amit et al [2004], Avnat et al [2023]
FANCA Fanconi anemia ARc.3788_3790delTCTp.Phe1263del<100% 3UnknownDruze
(Israel)		 NM_000135​.4
NP_000126​.2 		Steinberg-Shemer et al [2020]
GALC Krabbe disease ARc.1796T>Gp.Ile599Ser~100% 4~1/6 to 1/16Druze
(N Israel)		 NM_000153​.4
NP_000144​.2 		Rafi et al [1996], Tappino et al [2010]
GATC Combined oxidative phosphorylation deficiency 42 (OMIM 618839)ARc.233T>Gp.Met78Arg~100% 41/59Druze
(Israel)		 NM_176818​.3
NP_789788​.1 		Friederich et al [2018], Avnat et al [2023]
GNPTG Mucolipidosis III gamma ARc.499dupCp.Leu167ProfsTer32<100% 31/59Druze
(N Israel)		 NM_032520​.5
NP_115909​.1 		Raas-Rothschild et al [2000], Avnat et al [2023]
HOGA1 Primary hyperoxaluria, type III (OMIM 613616)ARc.944_946delAGGp.Glu315del~100% 41/20Druze
(Israel)		 NM_138413​.4
NP_612422​.2 		Avnat et al [2023]
IDUA Mucopolysaccharidosis type 1 ARc.1096A>Cp.Thr366Pro~60%1/39Druze
(Galilee, Israel)		 NM_000203​.5
NP_000194​.2 		Bach et al [1993], Avnat et al [2023]
INSR INSR-related severe syndromic insulin resistance ARc.167T>Cp.Ile56Thr~100% 4~1/50Druze
(Israel)		 NM_000208​.4
NP_000199​.2 		Falik-Zaccai et al [2014]
LDLR Familial hypercholesterolemia AD
AR		c.564C>Gp.Tyr188Ter<100% 3UnknownDruze
(Golan Heights)		 NM_000527​.5
NP_000518​.1 		Landsberger et al [1992]
MCOLN1 Mucolipidosis IV ARc.964C>Tp.Arg322Ter<100% 3UnknownDruze
(Golan Heights)		 NM_020533​.3
NP_065394​.1 		Bargal et al [2001]
MEFV Familial Mediterranean fever ARc.442G>Cp.Glu148Gln52%UnknownDruze
(Israel)		 NM_000243​.3
NP_000234​.1 		Sharkia et al [2013], Avnat et al [2023]
c.2177T>Cp.Val726Ala41%
c.2082G>Ap.Met694Ile7%1/40
MUTYH MUTYH polyposis ARc.1437_1439delGGAp.Glu480del~100% 41/34Druze
(Israel)		 NM_001128425​.2
NP_001121897​.1 		Avnat et al [2023], Reznick Levi et al [2023]
NARS2 Combined oxidative phosphorylation deficiency 24 (OMIM 616239)ARc.500A>Gp.His167Arg~100% 4UnknownDruze
(Israel)		 NM_024678​.6
NP_078954​.4 		Mizuguchi et al [2017]
NGLY1 NGLY1-related congenital disorder of deglycosylation ARc.1294G>Tp.Glu432Ter~100% 41/25Druze
(village in Israel)		 NM_018297​.4
NP_060767​.2 		Kalfon et al [2022]
PCNT Microcephalic osteodysplastic primordial dwarfism type II ARc.3465-1G>A
(IVS17-1G>A)		--~100% 41/30Druze
(N Israel)		 NM_006031​.6 Weiss et al [2020]
PEPD Prolidase deficiency ARc.605C>Tp.Ser202Phe~85%1/21Druze
(Galilee, Israel)		 NM_000285​.4
NP_000276​.2 		Falik-Zaccai et al [2008a], Falik-Zaccai et al [2010]
RDH5 Fundus albipunctatus (OMIM 136880)AD
AR		c.712G>Tp.Gly238Trp~100% 41/40Druze
(Israel)		 NM_002905​.5
NP_002896​.2 		Sharon et al [2020], Avnat et al [2023]
ROGDI Kohlschutter-Tonz syndrome (OMIM 226750)ARc.469C>Tp.Arg157Ter~100% 4~1/10Druze
(N Israel)		 NM_024589​.3
NP_078865​.1 		Mory et al [2012]

Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; N = northern

1.

Does not conform to standard HGVS nomenclature.

2.

This percentage does not account for the possibility of rare de novo pathogenic variants occurring in this population.

3.

At least one additional variant reported in this population in ≥1 family (See Israeli Medical Genetic Database.)

4.

To date, additional pathogenic variants in this gene have not been reported in individuals of Druze descent.

5.

Druze population originally from Lebanon and Syria.

6.

Druze population originally from central Lebanon and Jordan

References

  • Avnat E, Shapira G, Shoval S, Israel-Elgali I, Alkelai A, Shuldiner AR, Gonzaga-Jauregui C, Zidan J, Maray T, Shomron N, Friedman E. Comprehensive genetic analysis of Druze provides insights into carrier screening. Genes (Basel). 2023;14:937. [PMC free article: PMC10137689] [PubMed: 37107695]
  • Bach G, Moskowitz SM, Tieu PT, Matynia A, Neufeld EF. Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area. Am J Hum Genet. 1993;53:330-8. [PMC free article: PMC1682364] [PubMed: 8328452]
  • Bargal R, Avidan N, Olender T, Ben Asher E, Zeigler M, Raas-Rothschild A, Frumkin A, Ben-Yoseph O, Friedlender Y, Lancet D, Bach G. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population. Hum Mutat. 2001;17:397-402. [PubMed: 11317355]
  • Chuang JL, Wynn RM, Moss CC, Song JL, Li J, Awad N, Mandel H, Chuang DT. Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. J Biol Chem. 2004;279:17792-800. [PubMed: 14742428]
  • DeBarber AE, Kalfon L, Fedida A, Fleisher Sheffer V, Ben Haroush S, Chasnyk N, Shuster Biton E, Mandel H, Jeffries K, Shinwell ES, Falik-Zaccai TC. Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. J Lipid Res. 2018;59:2214-22. [PMC free article: PMC6210902] [PubMed: 30135217]
  • Estrada-Cuzcano A., Neveling K., Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJF, Mans DA, and 12 others. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012;90:102-9. [PMC free article: PMC3257957] [PubMed: 22177090]
  • Falik-Zaccai TC, Kalfon L, Klar A, Elisha M, Ben Hurvitz H, Weingarten G, Chechik E, Fleisher Sheffer V, Haj Yahya R, Meidan G, Gross-Kieselstein E, Bauman D, Hershkovitz S, Yaron Y, Orr-Urtreger A, Wertheimer E. Two novel mutations identified in familial cases with Donohue syndrome. Mol Genet Genomic Med. 2014;2:64–72. [PMC free article: PMC3907912] [PubMed: 24498630]
  • Falik-Zaccai TC, Kfir N, Frenkel P, Cohen C, Tanus M, Mandel H, Shihab S, Morkos S, Aaref S, Summar ML, Khayat M. Population screening in a Druze community: the challenge and the reward. Genet Med. 2008a;10:903-9. [PubMed: 19092443]
  • Falik-Zaccai TC, Khayat M, Luder A, Frenkel P, Magen D, Brik R, Gershoni-Baruch R, Mandel H. A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability. Am J Med Genet B Neuropsychiatr Genet. 2010;153B:46-56. [PubMed: 19308961]
  • Falik-Zaccai TC, Laskar M, Kfir N, Nasser W, Slor H, Khayat M. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6. Am J Med Genet A. 2008b;146A:1423-9. [PubMed: 18446857]
  • Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A. Identification of two mutations for ataxia telangiectasia among the Druze community. Prenat Diagn. 2004;24:358-62. [PubMed: 15164409]
  • Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018;9:4065. [PMC free article: PMC6170436] [PubMed: 30283131]
  • Fromovich-Amit Y, Zivelin A, Rosenberg N, Tamary H, Landau M, Seligsohn U. Characterization of mutations causing factor VII deficiency in 61 unrelated Israeli patients. J Thromb Haemost. 2004;2:1774-81. [PubMed: 15456489]
  • Geyer O, Wolf A, Levinger E, Harari-Shacham A, Walton DS, Shochat C, Korem S, Bercovich D. Genotype/phenotype correlation in primary congenital glaucoma patients from different ethnic groups of the Israeli population. Am J Ophthalmol. 2011;151:263-71.e1. [PubMed: 21168818]
  • Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. A founder mutation in EHD1 presents with tubular proteinuria and deafness. J Am Soc Nephrol. 2022;33:732-45. [PMC free article: PMC8970462] [PubMed: 35149593]
  • Kalfon L, Baydany M, Samra N, Heno N, Segal Z, Eran A, Yulevich A, Fellig Y, Mandel H, Falik-Zaccai TC. Congenital hypotonia: cracking a saga of consanguineous kindred harboring four genetic variants. Mol Genet Genomic Med. 2022;10:e1849. [PMC free article: PMC8801141] [PubMed: 34970863]
  • Kalinsky H, Funes A, Zeldin A, Pel-Or Y, Korostishevsky M, Gershoni-Baruch R, Farrer LA, Bonne-Tamir B. Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. Hum Mutat. 1998;11:145-51. [PubMed: 9482578]
  • Landsberger D, Meiner V, Reshef A, Levy Y, van der Westhuyzen DR, Coetzee GA, Leitersdorf E. A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect. Am J Hum Genet. 1992;50:427-433. [PMC free article: PMC1682466] [PubMed: 1734722]
  • Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011;7:e1002427. [PMC free article: PMC3248466] [PubMed: 22242004]
  • Leitersdorf E, Safadi R, Meiner V, Reshef A, Bjorkhem I, Friedlander Y, Morkos S, Berginer VM. Cerebrotendinous xanthomatosis in the Israeli Druze: molecular genetics and phenotypic characteristics. Am J Hum Genet. 1994;55:907–15. [PMC free article: PMC1918342] [PubMed: 7977352]
  • Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, Anbinder Y, Berkowitz D, Hartman C, Barak M, Eriksson S, Cohen N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001;29:337-41. [PubMed: 11687800]
  • Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N, Mandel H, Eran A, Toyono M, Sawaishi Y, Motoi H, Shiina M, Ogata K, Miyatake S, Miyake N, Saitsu H, Matsumoto N. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet. 2017;62:525-9. [PubMed: 28077841]
  • Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R. A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. Am J Hum Genet. 2012;90:708-14. [PMC free article: PMC3322231] [PubMed: 22482807]
  • Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, Zeigler M, Mandel H, Toth S, Roe B, Munnich A, Canfield WM. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000;105:673-81. [PMC free article: PMC289169] [PubMed: 10712439]
  • Rafi MA, Luzi P, Zlotogora J, Wenger DA. Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. Hum Genet. 1996;97:304-8. [PubMed: 8786069]
  • Reznick Levi G, Goldberg Y, Segev H, Maza I, Gorelik Y, Laish I, Levi Z, Kedar I, Naftali Nathan S, Sharon Swartzman N, Abu Freha N, Paritsky M, Rennert G, Baris Feldman H, Paperna T, Weiss K, Half EE. High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants. Dig Liver Dis. 2023;55:880-7. [PubMed: 36740502]
  • Sharkia R, Mahajnah M, Zalan A, Athamna M, Azem A, Badarneh K, Faris F. Comparative screening of FMF mutations in various communities of the Israeli society. Eur J Med Genet. 2013;56:351-5. [PubMed: 23602951]
  • Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Hum Mutat. 2020;41:140-9. [PubMed: 31456290]
  • Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. Nature Genet. 2001;29:134-6. [PubMed: 11544476]
  • Steinberg-Shemer O, Goldberg TA, Yacobovich J, Levin C, Koren A, Revel-Vilk S, Ben-Ami T, Kuperman AA, Zemer VS, Toren A, Kapelushnik J, Ben-Barak A, Miskin H, Krasnov T, Noy-Lotan S, Dgany O, Tamary H. Characterization and genotype-phenotype correlation of patients with Fanconi anemia in a multi-ethnic population. Haematologica. 2020;105:1825-34. [PMC free article: PMC7327661] [PubMed: 31558676]
  • Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. Hum Mutat. 2010;31:E1894-914. [PMC free article: PMC3052420] [PubMed: 20886637]
  • Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M. Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population. Eur J Med Genet. 2020; 63:103643. [PubMed: 30922925]
  • Wynn RM, Chuang JL, Sansaricq C, Mandel H, Chuang DT. Biochemical basis of type IB (E1beta) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel. J Biol Chem. 2001;276:36550-6. [PubMed: 11448970]

Revision History

  • 28 September 2023 (sw) Revision: added ABCA4, EHD1, FANCA, HOGA1, MUTYH, NGLY1, and RDH5; updated reference sequences
  • 16 December 2021 (ha) Revision: added Falik-Zaccai et al [2008a]
  • 7 November 2019 (sw) Initial posting
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK549466
GeneReviews by Title

Views

  • PubReader
  • Print View
  • Cite this Page
  • PDF version of this page (188K)

Bulk Download

GeneReviews Links

Related information

  • PMC
    PubMed Central citations
  • PubMed
    Links to PubMed

Recent Activity

ClearTurn OffTurn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...