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Article

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).

Journal of medical genetics - 1 Mar 2015

Wilbe Maria, Ekvall Sara, Eurenius Karin, Ericson Katharina, Casar-Borota Olivera, Klar Joakim, Dahl Niklas, Ameur Adam, Annerén Göran, Bondeson Marie-Louise

Abstract excerpt

BACKGROUND: Fetal akinesia deformation sequence syndrome (FADS, OMIM 208150) is characterised by decreased fetal movement (fetal akinesia) as well as intrauterine growth restriction, arthrogryposis, and developmental anomalies (eg, cystic hygroma, pulmonary hypoplasia, cleft palate, and cryptorchidism). Mutations in components of the acetylcholine receptor (AChR) pathway have previously been associated with FADS....

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Identifiers

PMID: 25612909
DOI: 10.1136/jmedgenet-2014-102730

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