Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature

Objective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM. Method: A pregnant woman with recurrent fetal hydr...

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Hlavní autoři:	Q.C. Wu, L. Sun, Y.S. Xu, X.M. Yang, L.K. Zheng
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	IMR Press 2020-12-01
Edice:	Clinical and Experimental Obstetrics & Gynecology
Témata:	nemaline myopathy fetal akinesia gene pathology whole-exome sequencing
On-line přístup:	https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096
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