Etiology
Tonni G,
Koçak Ç,
Grisolia G,
Rizzo G,
Araujo Júnior E,
Werner H,
Ruano R,
Sepulveda W,
Bonasoni MP,
Lituania M;
“International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol
2023 Aug;42(4):651-674.
Epub 2023 May 17
doi: 10.1080/15513815.2023.2206905.
PMID: 37195727
Mikwar M,
MacFarlane AJ,
Marchetti F
Mutat Res Rev Mutat Res
2020 Jul-Sep;785:108320.
Epub 2020 Jul 4
doi: 10.1016/j.mrrev.2020.108320.
PMID: 32800274
Mehta L,
Jim B
Semin Nephrol
2017 Jul;37(4):354-361.
doi: 10.1016/j.semnephrol.2017.05.007.
PMID: 28711074
Has C,
He Y
Cell Tissue Res
2017 Jul;369(1):63-73.
Epub 2017 Apr 22
doi: 10.1007/s00441-017-2623-y.
PMID: 28432467
de Munnik SA,
Hoefsloot EH,
Roukema J,
Schoots J,
Knoers NV,
Brunner HG,
Jackson AP,
Bongers EM
Orphanet J Rare Dis
2015 Sep 17;10:114.
doi: 10.1186/s13023-015-0322-x.
PMID: 26381604Free PMC Article
Diagnosis
Herlin MK,
Petersen MB,
Brännström M
Orphanet J Rare Dis
2020 Aug 20;15(1):214.
doi: 10.1186/s13023-020-01491-9.
PMID: 32819397Free PMC Article
Talati AN,
Webster CM,
Vora NL
Prenat Diagn
2019 Aug;39(9):679-692.
Epub 2019 Aug 5
doi: 10.1002/pd.5536.
PMID: 31343747Free PMC Article
Winyard P,
Chitty LS
Semin Fetal Neonatal Med
2008 Jun;13(3):142-51.
Epub 2007 Dec 11
doi: 10.1016/j.siny.2007.10.009.
PMID: 18065301
Girard C,
Bigorre M,
Guillot B,
Bessis D
Arch Dermatol
2006 Jul;142(7):884-8.
doi: 10.1001/archderm.142.7.884.
PMID: 16847205
Peeters H,
Devriendt K
Eur J Med Genet
2006 Sep-Oct;49(5):349-62.
Epub 2006 Jan 3
doi: 10.1016/j.ejmg.2005.12.003.
PMID: 16461029
Therapy
Butler G,
Srirangalingam U,
Faithfull J,
Sangster P,
Senniappan S,
Mitchell R
Arch Dis Child
2023 Mar;108(3):166-171.
Epub 2022 Aug 10
doi: 10.1136/archdischild-2020-320831.
PMID: 35948402Free PMC Article
Kashtan CE
Am J Kidney Dis
2021 Feb;77(2):272-279.
Epub 2020 Jul 22
doi: 10.1053/j.ajkd.2020.03.026.
PMID: 32712016
Herlin MK,
Petersen MB,
Brännström M
Orphanet J Rare Dis
2020 Aug 20;15(1):214.
doi: 10.1186/s13023-020-01491-9.
PMID: 32819397Free PMC Article
Konstam MA,
Kiernan MS,
Bernstein D,
Bozkurt B,
Jacob M,
Kapur NK,
Kociol RD,
Lewis EF,
Mehra MR,
Pagani FD,
Raval AN,
Ward C;
American Heart Association Council on Clinical Cardiology; Council on Cardiovascular Disease in the Young; and Council on Cardiovascular Surgery and Anesthesia
Circulation
2018 May 15;137(20):e578-e622.
Epub 2018 Apr 12
doi: 10.1161/CIR.0000000000000560.
PMID: 29650544
Lippe B
Endocrinol Metab Clin North Am
1991 Mar;20(1):121-52.
PMID: 2029883
Prognosis
van der Ven AT,
Connaughton DM,
Ityel H,
Mann N,
Nakayama M,
Chen J,
Vivante A,
Hwang DY,
Schulz J,
Braun DA,
Schmidt JM,
Schapiro D,
Schneider R,
Warejko JK,
Daga A,
Majmundar AJ,
Tan W,
Jobst-Schwan T,
Hermle T,
Widmeier E,
Ashraf S,
Amar A,
Hoogstraaten CA,
Hugo H,
Kitzler TM,
Kause F,
Kolvenbach CM,
Dai R,
Spaneas L,
Amann K,
Stein DR,
Baum MA,
Somers MJG,
Rodig NM,
Ferguson MA,
Traum AZ,
Daouk GH,
Bogdanović R,
Stajić N,
Soliman NA,
Kari JA,
El Desoky S,
Fathy HM,
Milosevic D,
Al-Saffar M,
Awad HS,
Eid LA,
Selvin A,
Senguttuvan P,
Sanna-Cherchi S,
Rehm HL,
MacArthur DG,
Lek M,
Laricchia KM,
Wilson MW,
Mane SM,
Lifton RP,
Lee RS,
Bauer SB,
Lu W,
Reutter HM,
Tasic V,
Shril S,
Hildebrandt F
J Am Soc Nephrol
2018 Sep;29(9):2348-2361.
Epub 2018 Aug 24
doi: 10.1681/ASN.2017121265.
PMID: 30143558Free PMC Article
Solomon BD
Orphanet J Rare Dis
2011 Aug 16;6:56.
doi: 10.1186/1750-1172-6-56.
PMID: 21846383Free PMC Article
Digilio MC,
Dallapiccola B
Orphanet J Rare Dis
2010 Sep 29;5:25.
doi: 10.1186/1750-1172-5-25.
PMID: 20920258Free PMC Article
Winyard P,
Chitty LS
Semin Fetal Neonatal Med
2008 Jun;13(3):142-51.
Epub 2007 Dec 11
doi: 10.1016/j.siny.2007.10.009.
PMID: 18065301
Sztriha L,
Al-Gazali L,
Várady E,
Nork M,
Varughese M
Pediatr Neurol
1998 Apr;18(4):362-5.
doi: 10.1016/s0887-8994(97)00213-0.
PMID: 9588537
Clinical prediction guides
Yulia A,
Winyard P
Early Hum Dev
2018 Nov;126:38-46.
Epub 2018 Sep 10
doi: 10.1016/j.earlhumdev.2018.08.017.
PMID: 30213573
Jacquinet A,
Millar D,
Lehman A
Am J Med Genet A
2016 Aug;170(8):2141-72.
Epub 2016 Jun 8
doi: 10.1002/ajmg.a.37775.
PMID: 27273803
Gubler MC
Pediatr Nephrol
2014 Jan;29(1):51-9.
Epub 2013 May 1
doi: 10.1007/s00467-013-2480-1.
PMID: 23636579
Winyard P,
Chitty LS
Semin Fetal Neonatal Med
2008 Jun;13(3):142-51.
Epub 2007 Dec 11
doi: 10.1016/j.siny.2007.10.009.
PMID: 18065301
Girard C,
Bigorre M,
Guillot B,
Bessis D
Arch Dermatol
2006 Jul;142(7):884-8.
doi: 10.1001/archderm.142.7.884.
PMID: 16847205