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Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Isolated hypogonadotropic hypogonadism (IHH) is a genetically heterogeneous condition in which patients frequently require assisted reproduction to achieve fertility. In patients with IHH who are otherwise well, no particular increased risk of congenital anomalies in the resultant offspring has been...

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Detalhes bibliográficos
Main Authors: Stark, Zornitza, Storen, Rebecca, Bennetts, Bruce, Savarirayan, Ravi, Jamieson, Robyn V
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137491/
https://ncbi.nlm.nih.gov/pubmed/21326281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.11
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