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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Bibliografiske detaljer
Udgivet i:J Endocr Soc
Main Authors: Benedetti, Anna Flavia Figueredo, Silva, Juliana M, Biscotto, Isabela Peixoto, Ferreira, Nathalia Pereira, Arnhold, Ivo J, Mendonca, Berenice Bilharinho, Carvalho, Luciani Renata Silveira
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2020
Fag:
Neuroendocrinology and Pituitary
Online adgang: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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