Etiology
Shepherdson JL,
Hutchison K,
Don DW,
McGillivray G,
Choi TI,
Allan CA,
Amor DJ,
Banka S,
Basel DG,
Buch LD,
Carere DA,
Carroll R,
Clayton-Smith J,
Crawford A,
Dunø M,
Faivre L,
Gilfillan CP,
Gold NB,
Gripp KW,
Hobson E,
Holtz AM,
Innes AM,
Isidor B,
Jackson A,
Katsonis P,
Amel Riazat Kesh L;
Genomics England Research Consortium,
Küry S,
Lecoquierre F,
Lockhart P,
Maraval J,
Matsumoto N,
McCarrier J,
McCarthy J,
Miyake N,
Moey LH,
Németh AH,
Østergaard E,
Patel R,
Pope K,
Posey JE,
Schnur RE,
Shaw M,
Stolerman E,
Taylor JP,
Wadman E,
Wakeling E,
White SM,
Wong LC,
Lupski JR,
Lichtarge O,
Corbett MA,
Gecz J,
Nicolet CM,
Farnham PJ,
Kim CH,
Shinawi M
Am J Hum Genet
2024 Mar 7;111(3):487-508.
Epub 2024 Feb 6
doi: 10.1016/j.ajhg.2024.01.007.
PMID: 38325380Free PMC Article
Zanini D,
Todorovic N,
Korovljev D,
Stajer V,
Ostojic J,
Purac J,
Kojic D,
Vukasinovic E,
Djordjievski S,
Sopic M,
Guzonjic A,
Ninic A,
Erceg S,
Ostojic SM
Exp Gerontol
2021 Nov;155:111574.
Epub 2021 Oct 1
doi: 10.1016/j.exger.2021.111574.
PMID: 34601077
de Maio M
Aesthetic Plast Surg
2018 Jun;42(3):798-814.
Epub 2018 Mar 16
doi: 10.1007/s00266-018-1116-z.
PMID: 29549406Free PMC Article
Koemans TS,
Kleefstra T,
Chubak MC,
Stone MH,
Reijnders MRF,
de Munnik S,
Willemsen MH,
Fenckova M,
Stumpel CTRM,
Bok LA,
Sifuentes Saenz M,
Byerly KA,
Baughn LB,
Stegmann APA,
Pfundt R,
Zhou H,
van Bokhoven H,
Schenck A,
Kramer JM
PLoS Genet
2017 Oct;13(10):e1006864.
Epub 2017 Oct 25
doi: 10.1371/journal.pgen.1006864.
PMID: 29069077Free PMC Article
Chistiakov DA,
Voronova NV,
Chistiakov AP
Eur J Med Genet
2009 Nov-Dec;52(6):373-8.
Epub 2009 May 23
doi: 10.1016/j.ejmg.2009.05.009.
PMID: 19467349
Diagnosis
Ganesh VS,
Riquin K,
Chatron N,
Yoon E,
Lamar KM,
Aziz MC,
Monin P,
O'Leary MC,
Goodrich JK,
Garimella KV,
England E,
Weisburd B,
Aguet F,
Bacino CA,
Murdock DR,
Dai H,
Rosenfeld JA,
Emrick LT,
Ketkar S,
Sarusi Y,
Sanlaville D,
Kayani S,
Broadbent B,
Pengam A,
Isidor B,
Bezieau S,
Cogné B,
MacArthur DG,
Ulitsky I,
Carvill GL,
O'Donnell-Luria A
N Engl J Med
2024 Oct 24;391(16):1511-1518.
doi: 10.1056/NEJMoa2400718.
PMID: 39442041
Long HK,
Osterwalder M,
Welsh IC,
Hansen K,
Davies JOJ,
Liu YE,
Koska M,
Adams AT,
Aho R,
Arora N,
Ikeda K,
Williams RM,
Sauka-Spengler T,
Porteus MH,
Mohun T,
Dickel DE,
Swigut T,
Hughes JR,
Higgs DR,
Visel A,
Selleri L,
Wysocka J
Cell Stem Cell
2020 Nov 5;27(5):765-783.e14.
Epub 2020 Sep 28
doi: 10.1016/j.stem.2020.09.001.
PMID: 32991838Free PMC Article
Lindell A
Prog Brain Res
2018;238:249-270.
Epub 2018 Jul 2
doi: 10.1016/bs.pbr.2018.06.005.
PMID: 30097194
Kendler KS
Mol Psychiatry
2017 Nov;22(11):1539-1553.
Epub 2017 Aug 8
doi: 10.1038/mp.2017.148.
PMID: 28785109
Ferner RE,
O'Doherty MJ
Curr Opin Neurol
2002 Dec;15(6):679-84.
doi: 10.1097/01.wco.0000044763.39452.aa.
PMID: 12447105
Therapy
Chien AL,
Kim DJ,
Cheng N,
Shin J,
Leung SG,
Nelson AM,
Zang J,
Suh H,
Rainer B,
Wallis L,
Okoye GA,
Loss M,
Kang S
JAMA Dermatol
2022 Aug 1;158(8):879-886.
doi: 10.1001/jamadermatol.2022.1891.
PMID: 35675051Free PMC Article
Zanini D,
Todorovic N,
Korovljev D,
Stajer V,
Ostojic J,
Purac J,
Kojic D,
Vukasinovic E,
Djordjievski S,
Sopic M,
Guzonjic A,
Ninic A,
Erceg S,
Ostojic SM
Exp Gerontol
2021 Nov;155:111574.
Epub 2021 Oct 1
doi: 10.1016/j.exger.2021.111574.
PMID: 34601077
de Maio M
Aesthetic Plast Surg
2018 Jun;42(3):798-814.
Epub 2018 Mar 16
doi: 10.1007/s00266-018-1116-z.
PMID: 29549406Free PMC Article
Ames JA,
Sykes JM
Curr Opin Otolaryngol Head Neck Surg
2015 Aug;23(4):286-91.
doi: 10.1097/MOO.0000000000000170.
PMID: 26101875
Tawil R,
Van Der Maarel SM
Muscle Nerve
2006 Jul;34(1):1-15.
doi: 10.1002/mus.20522.
PMID: 16508966
Prognosis
Talukder A,
Ghosh S
Sci Rep
2024 Nov 12;14(1):27760.
doi: 10.1038/s41598-024-79146-z.
PMID: 39533039Free PMC Article
Ha T,
Morgan A,
Bartos MN,
Beatty K,
Cogné B,
Braun D,
Gerber CB,
Gaspar H,
Kopps AM,
Rieubland C,
Hurst ACE,
Amor DJ,
Nizon M,
Pasquier L,
Pfundt R,
Reis A,
Siu VM,
Tessarech M,
Thompson ML,
Vincent M,
de Vries BBA,
Walsh MB,
Wechsler SB,
Zweier C,
Schnur RE,
Guillen Sacoto MJ,
Margot H,
Masotto B,
Palafoll MIV,
Nawaz U,
Voineagu I,
Slavotinek A
Am J Med Genet A
2024 Jul;194(7):e63559.
Epub 2024 Feb 29
doi: 10.1002/ajmg.a.63559.
PMID: 38421105Free PMC Article
Chien AL,
Kim DJ,
Cheng N,
Shin J,
Leung SG,
Nelson AM,
Zang J,
Suh H,
Rainer B,
Wallis L,
Okoye GA,
Loss M,
Kang S
JAMA Dermatol
2022 Aug 1;158(8):879-886.
doi: 10.1001/jamadermatol.2022.1891.
PMID: 35675051Free PMC Article
Koemans TS,
Kleefstra T,
Chubak MC,
Stone MH,
Reijnders MRF,
de Munnik S,
Willemsen MH,
Fenckova M,
Stumpel CTRM,
Bok LA,
Sifuentes Saenz M,
Byerly KA,
Baughn LB,
Stegmann APA,
Pfundt R,
Zhou H,
van Bokhoven H,
Schenck A,
Kramer JM
PLoS Genet
2017 Oct;13(10):e1006864.
Epub 2017 Oct 25
doi: 10.1371/journal.pgen.1006864.
PMID: 29069077Free PMC Article
Kendler KS
Mol Psychiatry
2017 Nov;22(11):1539-1553.
Epub 2017 Aug 8
doi: 10.1038/mp.2017.148.
PMID: 28785109
Clinical prediction guides
Talukder A,
Ghosh S
Sci Rep
2024 Nov 12;14(1):27760.
doi: 10.1038/s41598-024-79146-z.
PMID: 39533039Free PMC Article
Shepherdson JL,
Hutchison K,
Don DW,
McGillivray G,
Choi TI,
Allan CA,
Amor DJ,
Banka S,
Basel DG,
Buch LD,
Carere DA,
Carroll R,
Clayton-Smith J,
Crawford A,
Dunø M,
Faivre L,
Gilfillan CP,
Gold NB,
Gripp KW,
Hobson E,
Holtz AM,
Innes AM,
Isidor B,
Jackson A,
Katsonis P,
Amel Riazat Kesh L;
Genomics England Research Consortium,
Küry S,
Lecoquierre F,
Lockhart P,
Maraval J,
Matsumoto N,
McCarrier J,
McCarthy J,
Miyake N,
Moey LH,
Németh AH,
Østergaard E,
Patel R,
Pope K,
Posey JE,
Schnur RE,
Shaw M,
Stolerman E,
Taylor JP,
Wadman E,
Wakeling E,
White SM,
Wong LC,
Lupski JR,
Lichtarge O,
Corbett MA,
Gecz J,
Nicolet CM,
Farnham PJ,
Kim CH,
Shinawi M
Am J Hum Genet
2024 Mar 7;111(3):487-508.
Epub 2024 Feb 6
doi: 10.1016/j.ajhg.2024.01.007.
PMID: 38325380Free PMC Article
Chien AL,
Kim DJ,
Cheng N,
Shin J,
Leung SG,
Nelson AM,
Zang J,
Suh H,
Rainer B,
Wallis L,
Okoye GA,
Loss M,
Kang S
JAMA Dermatol
2022 Aug 1;158(8):879-886.
doi: 10.1001/jamadermatol.2022.1891.
PMID: 35675051Free PMC Article
Koemans TS,
Kleefstra T,
Chubak MC,
Stone MH,
Reijnders MRF,
de Munnik S,
Willemsen MH,
Fenckova M,
Stumpel CTRM,
Bok LA,
Sifuentes Saenz M,
Byerly KA,
Baughn LB,
Stegmann APA,
Pfundt R,
Zhou H,
van Bokhoven H,
Schenck A,
Kramer JM
PLoS Genet
2017 Oct;13(10):e1006864.
Epub 2017 Oct 25
doi: 10.1371/journal.pgen.1006864.
PMID: 29069077Free PMC Article
Thompson PD
Handb Clin Neurol
2012;103:619-22.
doi: 10.1016/B978-0-444-51892-7.00044-9.
PMID: 21827922