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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Brief Communications
Online adgang: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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