Germline mutation in DOK7 associated with fetal akinesia deformation sequence.

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...

Podrobná bibliografie
Hlavní autoři:	Vogt, J, Morgan, N, Marton, T, Maxwell, S, Harrison, B, Beeson, D, Maher, E
Médium:	Journal article
Jazyk:	English
Vydáno:	2009

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