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More Than Hypomyelination in Pol-III Disorder

The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition, and hypogonadotropic hypogonadism, but the recent identification of 2 genes responsible fo...

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Detalhes bibliográficos
Main Authors: Vanderver, Adeline, Tonduti, Davide, Bernard, Genevieve, Lai, Jinping, Rossi, Christopher, Carosso, Giovanni, Quezado, Martha, Wong, Kondi, Schiffmann, Raphael
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3797528/
https://ncbi.nlm.nih.gov/pubmed/23242285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e31827c99d2
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