DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies (vol 36, pg 593, 2015)

作者:Sukalo Maja*; Tilsen Felix; Kayserili Hulya; Mueller Dietmar; Tuysuz Beyhan; Ruddy Deborah M; Wakeling Emma; Orstavik Karen Helene; Bramswig Nuria C; Snape Katie M; Trembath Richard; De Smedt Maryse; van der Aa Nathalie; Skalej Martin; Mundlos Stefan; Wuyts Wim; Southgate Laura; Zenker Martin
来源:Human Mutation, 2015, 36(11): 1112-1112.
DOI:10.1002/humu.22830