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Article

A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

The Journal of clinical endocrinology and metabolism - 1 May 1998

Maya-Nuñez G, Zenteno J C, Ulloa-Aguirre A, Kofman-Alfaro S, Mendez J P

Abstract excerpt

Kallmann's syndrome (KS) is defined by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. Segregation analysis in familial cases has demonstrated diverse inheritance patterns, suggesting the existence of several genes regulating GnRH secretion. Genetic defects have been demonstrated in the KAL gene, located on the Xp22.3 region, explaining the X-linked form of the disease. We report...

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Source

Identifiers

PMID: 9589672
DOI: 10.1210/jcem.83.5.4817

Genes

GAA

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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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A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.PMID 9589672Read ↗

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X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.Semantic proximity Read ↗

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