SAT-295 An Extremely Rare Novel Missense Variant C.912G≫A; P.M304I in SOX3 Gene Is Responsible for X-Linked GH Deficiency in a Brazilian Boy Without Mental Retardation

SOX3 (SRY-related HMG-box gene 3), located in the X chromosome, spans only one exon and is expressed in the infundibulum, diencephalon and hypothalamus. Alterations in SOX3, mainly deletions or insertions in the polyalanine tract, were associated with mental retardation, isolated GH deficiency (IGHD...

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Detalles Bibliográficos
Autores principales: Benedetti, Anna Flavia Figueredo, Silva, Juliana M, Biscotto, Isabela Peixoto, Ferreira, Nathalia Pereira, Arnhold, Ivo J, Mendonca, Berenice Bilharinho, Carvalho, Luciani Renata Silveira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Neuroendocrinology and Pituitary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207679/
http://dx.doi.org/10.1210/jendso/bvaa046.1421

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207679/
http://dx.doi.org/10.1210/jendso/bvaa046.1421

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