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Article

Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.

BioMed research international - 1 Jan 2015

Xu Hao, Niu Yonghua, Wang Tao, Liu Simin, Xu Hua, Wang Shaogang, Liu Jihong, Ye Zhangqun

Abstract excerpt

Kallmann syndrome (KS) is characterized by isolated hypogonadotropic hypogonadism (IHH) with anosmia and is sometimes associated with cleft lip/palate (CLP). In order to describe the clinical features, genetic etiology, and treatment outcome of KS males with CLP, we performed genetic screening for 15 known causal IHH genes (KAL1, FGFR1, NELF, FGF8, CHD7, WDR11, SEMA3A, KISS1R, KISS1, PROKR2, PROK2, TAC3, TACR3,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Receptor, Fibroblast Growth Factor, Type 1

Share to Receptors, G-Protein-Coupled

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Source

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Identifiers

PMID: 26199944
DOI: 10.1155/2015/649698
PMCID: PMC4496468

Genes

FGFR1
IHH
CHD7
FGF8
GNRH1
GNRHR
KISS1
PROK2
PROKR2
TAC3
TACR3

Variants

Provenance

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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