Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report

BACKGROUND: Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying feature. The etiology of FADS is heterogeneous and mostly still unknown. A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pa...

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Detalles Bibliográficos
Autores principales: Li, Na, Qiao, Chong, Lv, Yuan, Yang, Tian, Liu, Hao, Yu, Wen-Qian, Liu, Cai-Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854405/
https://www.ncbi.nlm.nih.gov/pubmed/31750350
http://dx.doi.org/10.12998/wjcc.v7.i21.3655

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6854405/
https://www.ncbi.nlm.nih.gov/pubmed/31750350
http://dx.doi.org/10.12998/wjcc.v7.i21.3655

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