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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Format: | Book |
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IMR Press,
2020-12-01T00:00:00Z.
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A1234.567 |
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