Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies

BACKGROUND: A constellation of neurodegenerative disorders exist (Gordon Holmes syndrome, 4H leukodystrophy, Boucher Neuhauser syndrome) in which patients suffer from both neurologic disease (typically manifested by ataxia) and reproductive failure (hypogonadotropic hypogonadism (IHH)). POLR3B, whic...

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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: Richards, Mary R., Plummer, Lacey, Chan, Yee-Ming, Lippincott, Margaret F., Quinton, Richard, Kumanov, Philip, Seminara, Stephanie B.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5189673/
https://ncbi.nlm.nih.gov/pubmed/27512013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104064
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