Article
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Human mutation - 1 Sept 2018
Meester Josephina A N, Sukalo Maja, Schröder 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
Abstract excerpt
Adams-Oliver syndrome (AOS) is a rare developmental disorder, characterized by scalp aplasia cutis congenita (ACC) and transverse terminal limb defects (TTLD). Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution of mutations in large cohorts are currently limited. The...
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