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Article

High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.

Revista da Associacao Medica Brasileira (1992) - 1 Jan 2023

Ceylan Gülay Güleç, Habiloğlu Esra, Çavdarlı Büşranur, Tuncez Ebru, Bilen Sule, Köken Özlem Yayıcı, Gündüz C Nur Semerci

Abstract excerpt

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 also to show the limitations and importance of next-generation sequencing in the diagnosis of Charcot-Marie-Tooth...

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PMID: 36790232
DOI: 10.1590/1806-9282.20220929
PMCID: PMC9983476

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