Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Meester, Josephina A. N.; Sukalo, Maja; Schroeder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert-Dussardier, Brigitte; Holder-Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nelle, Heike; Reardon, Willie; Roll, Claudia; Salih, Mustafa A.; Savarirayan, Ravi; Scurr, Ingrid; Splitt, Miranda; Thompson, Elizabeth; Titheradge, Hannah; Travers, Colm P.; Van Maldergem, Lionel; Whiteford, Margo; Wieczorek, Dagmar; Vandeweyer, Geert; Trembath, Richard; Van Laer, Lut; Loeys, Bart L.; Zenker, Martin; Southgate, Laura; Wuyts, Wim

Erstveröffentlichung

2018

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Wissenschaftlicher Artikel

Autoren

Meester, Josephina A. N.

Sukalo, Maja

Schroeder, Kim C.

Schanze, Denny

Baynam, Gareth

et al.

Institutionen

UKU. Institut für Humangenetik

Erschienen in

Human Mutation ; 39 (2018), 9. - S. 1246-1261. - ISSN 1059-7794. - eISSN 1098-1004

Link zur Veröffentlichung

https://dx.doi.org/10.1002/humu.23567

Schlagwörter

Adams-Oliver syndrome; genetics; mutation screening; Notch signaling; Rho GTPase; aplasia-cutis-congenita; of-function mutations; clinical phenotypes; missense mutations; limb defects; notch1; anomalies; variants; domains; association

DDC-Sachgruppe

DDC 570 / Life sciences
DDC 610 / Medicine & health

Metadata

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