Δημοσίευση

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

ΤίτλοςPrenatal diagnosis of X-linked myopathy associated with a gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.
Publication TypeJournal Article
Year of Publication2017
AuthorsKonialis, C., Assimakopoulos E., Hagnefelt B., Karapanou S., Sotiriadis A., & Pangalos C.
JournalClin Case Rep
Volume5
Issue3
Pagination308-311
Date Published2017 Mar
ISSN2050-0904
Abstract

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.

DOI10.1002/ccr3.822
Alternate JournalClin Case Rep
PubMed ID28265396
PubMed Central IDPMC5331204

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