Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

doi:10.1210/jc.2003-030476

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Article

Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

The Journal of clinical endocrinology and metabolism - 1 Mar 2004

Sato Naoko, Katsumata Noriyuki, Kagami Masayo, Hasegawa Tomonobu, Hori Naoaki, Kawakita Setsuyo, Minowada Shigeru, Shimotsuka Aki, Shishiba Yoshimasa, Yokozawa Masato, Yasuda Toshiyuki, Nagasaki Keisuke, Hasegawa Daiichiro, Hasegawa Yukihiro, Tachibana Katsuhiko, Naiki Yasuhiro, Horikawa Reiko, Tanaka Toshiaki, Ogata Tsutomu

Abstract excerpt

We report on the clinical and molecular findings in 25 males and three females with Kallmann syndrome (KS) aged 10-53 yr. Ten males were from five families, and the remaining 15 males and three females were apparently sporadic cases. Molecular studies were performed for Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, also known as KAL2) by sequence analysis for all the coding exons, by...

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Identifiers

PMID: 15001591
DOI: 10.1210/jc.2003-030476

Genes

FGFR1
STS
VCX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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