A CASE OF SOTOS SYNDROME CAUSED BY A NOVEL VARIANT IN THE NSD1 GENE: A PROPOSED RATIONALE TO TREAT ACCOMPANYING PRECOCIOUS PUBERTY

Sotos syndrome is characterized by overgrowth, macrocephaly, distinctive facial features, and learning disabilities and is associated with alterations in the nuclear receptor binding SET domain protein 1 (NSD1) gene. Due to the advanced bone age, the eventual adult height is usually at the upper lim...

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Detalhes bibliográficos
Publicado no:Acta Endocrinol (Buchar)
Main Authors: Özcabi, B., Akay, G., Yesil, G., Uyur Yalcin, E., Kirmizibekmez, H.
Formato: Artigo
Idioma:Inglês
Publicado em: Acta Endocrinologica Foundation 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7535889/
https://ncbi.nlm.nih.gov/pubmed/33029244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4183/aeb.2020.245
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