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Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research / 中华男科学杂志
National Journal of Andrology ; (12): 838-841, 2017.
Artículo en Chino | WPRIM | ID: wpr-812869
ABSTRACT
The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves. Since then, there have been a number of related reports that mutation of SOX10 will lead to KS with deafness. This review focuses on the SOX10 gene and the advances in the diagnosis and genetic studies of KS with deafness caused by the mutatuin of SOX10.
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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Diferenciación Celular / Hormona Liberadora de Gonadotropina / Síndrome de Kallmann / Sordera / Factores de Transcripción SOXE / Genética / Hipogonadismo / Mutación Límite: Humanos Idioma: Chino Revista: National Journal of Andrology Año: 2017 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Diferenciación Celular / Hormona Liberadora de Gonadotropina / Síndrome de Kallmann / Sordera / Factores de Transcripción SOXE / Genética / Hipogonadismo / Mutación Límite: Humanos Idioma: Chino Revista: National Journal of Andrology Año: 2017 Tipo del documento: Artículo