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.
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ABSTRACT:
SUBMITTER: Konialis C
PROVIDER: S-EPMC5331204 | biostudies-literature | 2017 Mar
REPOSITORIES: biostudies-literature
Publications
Prenatal diagnosis of X-linked myopathy associated with a <i>VMA21</i> gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.
Konialis Christopher C Assimakopoulos Efstratios E Hagnefelt Birgitta B Karapanou Sophia S Sotiriadis Alexandros A Pangalos Constantinos C
Clinical case reports 20170204 3
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 mutation, detected through a novel prenatal exome sequencing-based approach. ...[more]
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