Partial duplication of DHH causes minifascicular neuropathy: A novel mutation detection of DHH

Minifascicular neuropathy (MN) is an extremely rare developmental malformation in which peripheral nerves are composed of many small fascicles. Only one patient with MN with 46XY gonadal dysgenesis (GD) was found to carry a mutation affecting the start codon in desert hedgehog (DHH). We identified a...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Sato, Naoko Saito, Maekawa, Risa, Ishiura, Hiroyuki, Mitsui, Jun, Naruse, Hiroya, Tokushige, Shin‐ichi, Sugie, Kazuma, Tate, Genshu, Shimizu, Jun, Goto, Jun, Tsuji, Shoji, Shiio, Yasushi
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5454394/
https://ncbi.nlm.nih.gov/pubmed/28589169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.417
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