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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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Detalles Bibliográficos
Autores principales: Seo, Go Hun, Kang, Eungu, Cho, Ja Hyang, Lee, Beom Hee, Choi, Jin-Ho, Kim, Gu-Hwan, Seo, Eul-Ju, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society of Pediatric Endocrinology 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504991/
https://www.ncbi.nlm.nih.gov/pubmed/26191517
http://dx.doi.org/10.6065/apem.2015.20.2.110