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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Bibliographic Details
Main Authors: Q.C. Wu (Author), L. Sun (Author), Y.S. Xu (Author), X.M. Yang (Author), L.K. Zheng (Author)
Format: Book
Published: IMR Press, 2020-12-01T00:00:00Z.
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3rd Floor Main Library

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