A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature-Reference-Cited by-同舟云学术

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature

Published:2019-02-26 Issue:1 Volume:24 Page:139-144
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Lerat Justine¹²^ORCID,Magdelaine Corinne¹³,Beauvais‐Dzugan Hélène¹³,Espil Caroline⁴,Ghorab Karima¹⁵,Latour Philippe⁶,Derouault Paco³,Sturtz Franck¹³,Lia Anne‐Sophie¹³

Affiliation:

1. Univ. LimogesMMNP Limoges France

2. CHU LimogesService Oto‐Rhino‐Laryngologie et Chirurgie Cervico‐Faciale Limoges France

3. CHU LimogesService Biochimie et Génétique Moléculaire Limoges France

4. CHU BordeauxService de Pédiatrie Bordeaux France

5. CHU LimogesService Neurologie Limoges France

6. CHU Lyon HCLGH Est, Service Neurobiologie Bron France

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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