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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454394/
https://www.ncbi.nlm.nih.gov/pubmed/28589169
http://dx.doi.org/10.1002/acn3.417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454394/
https://www.ncbi.nlm.nih.gov/pubmed/28589169
http://dx.doi.org/10.1002/acn3.417

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