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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| Автори: | , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
IMR Press
2020-12-01
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| Серія: | Clinical and Experimental Obstetrics & Gynecology |
| Предмети: | |
| Онлайн доступ: | https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096 |
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