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A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report

BACKGROUND: 11β-Hydroxylase deficiency (11OHD) is a common form of congenital adrenal hyperplasia that has been shown to result from inactivating CYP11B1 mutations, and pathogenic CYP11B2/CYP11B1 chimeras contribute to a minority of cases. Heterozygote cases (chimeras combined with missense mutation...

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Detalles Bibliográficos
Autores principales:	Duan, Lian, Shen, Rufei, Song, Lingyu, Liao, Yong, Zheng, Hongting
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5921981/ https://www.ncbi.nlm.nih.gov/pubmed/29703198 http://dx.doi.org/10.1186/s12902-018-0249-z

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