Prenatal diagnosis of X‐linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings

Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X‐linked myopathy involving a new VMA21 gene mut...

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Detalles Bibliográficos
Autores principales: Konialis, Christopher, Assimakopoulos, Efstratios, Hagnefelt, Birgitta, Karapanou, Sophia, Sotiriadis, Alexandros, Pangalos, Constantinos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5331204/
https://www.ncbi.nlm.nih.gov/pubmed/28265396
http://dx.doi.org/10.1002/ccr3.822

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