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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
Konialis, Christopher, Assimakopoulos, Efstratios, Hagnefelt, Birgitta, Karapanou, Sophia, Sotiriadis, Alexandros, Pangalos, ConstantinosVolume:
5
Language:
english
Journal:
Clinical Case Reports
DOI:
10.1002/ccr3.822
Date:
March, 2017
File:
PDF, 507 KB
english, 2017