Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

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Article

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

American journal of human genetics - 1 May 1992

Biancalana V, Briard M L, David A, Gilgenkrantz S, Kaplan J, Mathieu M, Piussan C, Poncin J, Schinzel A, Oudet C

Abstract excerpt

The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a lo...

Topics

Abnormalities, Multiple
Female
Genetic Linkage
Genetic Markers
Humans
Intellectual Disability
Male
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Syndrome
X Chromosome

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Identifiers

PMID: 1349200
PMCID: PMC1682597

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1349200-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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