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Article

Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.

Journal of Zhejiang University. Science. B - 1 Nov 2015

Zhang Zhe, Feng Ye, Ye Dan, Li Cheng-jiang, Dong Feng-qin, Tong Ying

Abstract excerpt

Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 26537215
DOI: 10.1631/jzus.B1400322
PMCID: PMC4642878

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