Article
[Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Liu Xingui, Bai Nan, Kong Xiangdong
Abstract excerpt
OBJECTIVE: To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency. METHODS: Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted. RESULTS: STS sites PCR showed that there was no deletion in the AZF zone. G-banding analysis indicated an unknown structural change in chromosome X, which was verified by single...
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