[A four-generation pedigree affected with X-linked adrenal hypoplasia congenita due to a novel missense DAX1 mutation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2019）
Abstract
The novel p.Q276P mutation of the DAX1 gene probably underlies the XL-AHC and HH in this pedigree with variable clinical presentations in the patients.
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