SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome

INTRODUCTION: Kallmann syndrome (KS) is a genetically heterogeneous condition characterized by hypogonadotropic hypogonadism (HH) and olfactory dysfunction. Although SOX10, a causative gene for Waardenburg syndrome (WS) and peripheral demyelinating neuropathy, central demyelination, WS, and Hirschsp...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Shima, Hirohito, Tokuhiro, Etsuro, Okamoto, Shingo, Nagamori, Mariko, Ogata, Tsutomu, Narumi, Satoshi, Nakamura, Akie, Izumi, Yoko, Jinno, Tomoko, Suzuki, Erina, Fukami, Maki
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2021
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8170842/
https://ncbi.nlm.nih.gov/pubmed/34095692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab056
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