Article
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
European journal of human genetics : EJHG - 1 Sept 2015
Tan-Sindhunata M Brigita, Mathijssen Inge B, Smit Margriet, Baas Frank, de Vries Johanna I, van der Voorn J Patrick, Kluijt Irma, Hagen Marleen A, Blom Eveline W, Sistermans Erik, Meijers-Heijboer Hanne, Waisfisz Quinten, Weiss Marjan M, Groffen Alexander J
Abstract excerpt
Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minority of cases. Here we identify MUSK as a novel cause of lethal FADS. Fourteen affected fetuses from a Dutch genetic...
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