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Article

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

American journal of human genetics - 1 May 1992

Farrer L A, Grundfast K M, Amos J, Arnos K S, Asher J H, Beighton P, Diehl S R, Fex J, Foy C, Friedman T B

Abstract excerpt

Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 WS type I and 3 WS type II families which were typed for six polymorphic loci on chromosome 2q in order to refine the location of the WS locus (WS1) and evaluate the extent of genetic heterogeneity. In the course of this work, we...

Topics

Alkaline Phosphatase
Chromosomes, Human, Pair 2
Female
GPI-Linked Proteins
Genetic Linkage
Genetic Variation
Humans
Isoenzymes
Male
Mutation
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Waardenburg Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 1349198
PMCID: PMC1682585

Genes

ALPP
SAG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1349198-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.PMID 1349198Read ↗

Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.Semantic proximity Read ↗

Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers.Semantic proximity Read ↗

Confirmation of the location of a Waardenburg syndrome type I mutation on human chromosome 2q. Tight linkage to FN1 and ALPP.Semantic proximity Read ↗

Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.Semantic proximity Read ↗

Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.Semantic proximity Read ↗

Analysis of variability of clinical manifestations in Waardenburg syndrome.Semantic proximity Read ↗

Homozygosity mapping of the Werner syndrome locus (WRN).Semantic proximity Read ↗

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