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Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation

Abstract Background Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation. Case presentation We...

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Principais autores: Xiu Zhao, Zhe Su, Xia Liu, Jianming Song, Yungen Gan, Pengqiang Wen, Shoulin Li, Li Wang, Lili Pan
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2018-11-01
Serier:BMC Endocrine Disorders
Fag:
Congenital lipoid adrenal hyperplasia
Steroidogenic acute regulatory protein
Mutation
Growth
Online adgang:http://link.springer.com/article/10.1186/s12902-018-0307-6
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