Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations.

doi:10.1016/0753-3322(94)90047-7

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Article

Waardenburg syndrome in man and splotch mutants in the mouse: a paradigm of the usefulness of linkage and synteny homologies in mouse and man for the genetic analysis of human congenital malformations.

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jan 1994

Delezoide A L, Vekemans M

Abstract excerpt

The use of chromosomal segments with conserved homologous linkage groups found in different species provides one method of predicting the location of genes causing congenital malformations in man. For example, homology between man and mouse involves 241 homologous autosomal genes spread on 68 hom...

Topics

Animals
Chromosome Mapping
Chromosomes
Genes, Homeobox
Genetic Linkage
Humans
Mice
Mice, Mutant Strains
Mutation
Phenotype
Sequence Homology
Waardenburg Syndrome

Source

Open in PubMed

Identifiers

PMID: 7858167
DOI: 10.1016/0753-3322(94)90047-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7858167-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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