Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
Authors: Naeimeh Tayebi*, Aleksander Jamsheer*, Ricarda Flöttmann*, Anna Sowinska-Seidler, Sandra C. Doelken, Barbara Oehl-Jaschkowitz, Wiebke Hülsemann, Rolf Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann
Published in: Orphanet Journal of Rare Diseases
Publication type: article
Subject areas: Medicine
SJR best quartile: Q1