Article
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Endocrine - 1 Sept 2016
Han Bing, Xue Liqiong, Fan Mengxia, Zhao Shuangxia, Liu Wei, Zhu Hui, Cheng Tong, Lu Yingli, Cheng Kaixiang, Song Huaidong, Liu Yang, Qiao Jie
Abstract excerpt
17-hydroxylase deficiency (17OHD) has long been regarded as a rare form of congenital adrenal hyperplasia, inherited in an autosomal recessive pattern. Fifteen patients with 17OHD were described from clinical manifestations and hormone profile. Then, CYP17A1 gene was amplified and sequenced in a new patient. Heterozygous mutations c. 431_433del, p.K144del/c. 985_987delinsAA, p.Y329 fs were identified. Functional...
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