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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Autori principali:	Xiu Zhao, Zhe Su, Xia Liu, Jianming Song, Yungen Gan, Pengqiang Wen, Shoulin Li, Li Wang, Lili Pan
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2018-11-01
Serie:	BMC Endocrine Disorders
Soggetti:	Congenital lipoid adrenal hyperplasia Steroidogenic acute regulatory protein Mutation Growth
Accesso online:	http://link.springer.com/article/10.1186/s12902-018-0307-6
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