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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Vydáno v:J Endocr Soc
Hlavní autoři: Benedetti, Anna Flavia Figueredo, Silva, Juliana M, Biscotto, Isabela Peixoto, Ferreira, Nathalia Pereira, Arnhold, Ivo J, Mendonca, Berenice Bilharinho, Carvalho, Luciani Renata Silveira
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
Témata:
Neuroendocrinology and Pituitary
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207679/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1421
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