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

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 report...

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Detalles Bibliográficos
Autores principales: Zhao, Xiu, Su, Zhe, Liu, Xia, Song, Jianming, Gan, Yungen, Wen, Pengqiang, Li, Shoulin, Wang, Li, Pan, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219181/
https://www.ncbi.nlm.nih.gov/pubmed/30400872
http://dx.doi.org/10.1186/s12902-018-0307-6