Turner syndrome presented with tall stature due to overdosage of the SHOX gene

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall st...

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Detalhes bibliográficos
Publicado no:Ann Pediatr Endocrinol Metab
Principais autores: Seo, Go Hun, Kang, Eungu, Cho, Ja Hyang, Lee, Beom Hee, Choi, Jin-Ho, Kim, Gu-Hwan, Seo, Eul-Ju, Yoo, Han-Wook
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society of Pediatric Endocrinology 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4504991/
https://ncbi.nlm.nih.gov/pubmed/26191517
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2015.20.2.110
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