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Article

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.

American journal of medical genetics - 15 Aug 1994

Edery P, Manach Y, Le Merrer M, Till M, Vignal A, Lyonnet S, Munnich A

Abstract excerpt

The Treacher Collins-Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413...

Topics

Chromosomes, Human, Pair 5
DNA, Satellite
Female
Genes, Dominant
Genotype
Haplotypes
Humans
Lod Score
Male
Mandibulofacial Dysostosis
Pedigree
Repetitive Sequences, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7802004
DOI: 10.1002/ajmg.1320520210

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7802004-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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