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

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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175364/
https://www.ncbi.nlm.nih.gov/pubmed/29924900
http://dx.doi.org/10.1002/humu.23567

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