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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Bibliographic Details
Published in:Ann Pediatr Endocrinol Metab
Main Authors: Seo, Go Hun, Kang, Eungu, Cho, Ja Hyang, Lee, Beom Hee, Choi, Jin-Ho, Kim, Gu-Hwan, Seo, Eul-Ju, Yoo, Han-Wook
Format: Artigo
Language:Inglês
Published: The Korean Society of Pediatric Endocrinology 2015
Subjects:
Case Report
Online Access: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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