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...

全面介紹

書目詳細資料
Main Authors: Vogt, J, Morgan, N, Marton, T, Maxwell, S, Harrison, B, Beeson, D, Maher, E
格式: Journal article
語言:English
出版: 2009