High diagnostic yield with algorithmic molecular approach on hereditary neuropathies

OBJECTIVE: Charcot-Marie-Tooth disease covers a group of inherited peripheral neuropathies. The aim of this study was to investigate the effect of targeted next-generation sequencing panels on the molecular diagnosis of Charcot-Marie-Tooth disease and its subtypes in routine clinical practice, and a...

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Detalles Bibliográficos
Autores principales: Ceylan, Gülay Güleç, Habiloğlu, Esra, Çavdarlı, Büşranur, Tuncez, Ebru, Bilen, Sule, Köken, Özlem Yayıcı, Gündüz, C. Nur Semerci
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Médica Brasileira 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983476/
https://www.ncbi.nlm.nih.gov/pubmed/36790232
http://dx.doi.org/10.1590/1806-9282.20220929

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9983476/
https://www.ncbi.nlm.nih.gov/pubmed/36790232
http://dx.doi.org/10.1590/1806-9282.20220929

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