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Article

A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.

BMC endocrine disorders - 25 Sept 2021

Xu Weiwei, Zhou Weibin, Lin Haiyang, Ye Dan, Chen Guoping, Dong Fengqin, Shen Jianguo

Abstract excerpt

BACKGROUND: Variants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5-6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we report a novel mutation of CHD7 gene in a patient with KS, which may contribute to the better understanding of KS. CASE PRESENTATION: A 29-year-old male patient with KS and a chief complaint of...

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Share to DNA Helicases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Magnetic Resonance Imaging

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Share to Puberty, Delayed

Share to Tomography, X-Ray Computed

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Identifiers

PMID: 34563184
DOI: 10.1186/s12902-021-00836-0
PMCID: PMC8465769

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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