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A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

SUMMARY: The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH)-producing neurons during embryonic de...

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Detalles Bibliográficos
Autores principales:	Wakabayashi, Tetsuji, Takei, Akihito, Okada, Nobukazu, Shinohara, Miki, Takahashi, Manabu, Nagashima, Shuichi, Okada, Kenta, Ebihara, Ken, Ishibashi, Shun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2021
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8115407/ https://www.ncbi.nlm.nih.gov/pubmed/33913437 http://dx.doi.org/10.1530/EDM-20-0145

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