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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Bibliografische gegevens
Gepubliceerd in:Ann Pediatr Endocrinol Metab
Hoofdauteurs: Seo, Go Hun, Kang, Eungu, Cho, Ja Hyang, Lee, Beom Hee, Choi, Jin-Ho, Kim, Gu-Hwan, Seo, Eul-Ju, Yoo, Han-Wook
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Korean Society of Pediatric Endocrinology 2015
Onderwerpen:
Case Report
Online toegang: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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