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Article

Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.

European journal of endocrinology - 1 Oct 2017

Nie Min, Xu Hongli, Chen Rongrong, Mao Jiangfeng, Wang Xi, Xiong Shuyu, Zheng Junjie, Yu Bingqing, Cui Mingxuan, Ma Wanlu, Huang Qibin, Zhang Hongbing, Wu Xueyan

Abstract excerpt

OBJECTIVE: To analyze ANOS1 gene mutations in a large Chinese Kallmann syndrome (KS) cohort and to characterize the clinical presentation of the disease in patients with ANOS1 mutations. PATIENTS AND METHODS: Chinese patients with KS, including 187 sporadic and 23 pedigree cases were recruited. Patients' ANOS1 gene sequences were analyzed by direct sequencing of PCR-amplified products. In silico analysis was used...

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Source

Identifiers

PMID: 28780519
DOI: 10.1530/EJE-17-0335

Genes

ANOS1
IHH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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