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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Publicat a:J Med Genet
Autors principals: Richards, Mary R., Plummer, Lacey, Chan, Yee-Ming, Lippincott, Margaret F., Quinton, Richard, Kumanov, Philip, Seminara, Stephanie B.
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Article
Accés en línia: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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