Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characterised by fetal akinesia and developmental defects including, in some case, pterygia. Multiple pterygium syndromes (MPS) are traditionally divided into prenatally lethal and non-lethal (such as Escobar...

詳細記述

書誌詳細
主要な著者: Vogt, J, Morgan, N, Marton, T, Maxwell, S, Harrison, B, Beeson, D, Maher, E
フォーマット: Journal article
言語:English
出版事項: 2009