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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...
Autores principales: | Shima, Hirohito, Tokuhiro, Etsuro, Okamoto, Shingo, Nagamori, Mariko, Ogata, Tsutomu, Narumi, Satoshi, Nakamura, Akie, Izumi, Yoko, Jinno, Tomoko, Suzuki, Erina, Fukami, Maki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8170842/ https://www.ncbi.nlm.nih.gov/pubmed/34095692 http://dx.doi.org/10.1210/jendso/bvab056 |
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