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Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report
Charcot-Marie-Tooth disease (CMT) is a highly heterogeneous genetic disorder. To date, more than 90 genes have been implicated in the pathogenesis of CMT. Here, we report the identification of a rare causative mutation in a Chinese family with CMT and a pregnant patient underwent prenatal diagnosis....
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9666213/ https://www.ncbi.nlm.nih.gov/pubmed/36397455 http://dx.doi.org/10.1097/MD.0000000000031733 |