Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

doi:10.1136/jmg.39.7.484

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Article

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

Journal of medical genetics - 1 Jul 2002

Hedera P, Toriello H V, Petty E M

Abstract excerpt

BACKGROUND: Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous. Other types of MFD are less common and, of these, only the Bauru type of MFD has an autosomal dominant (AD) mode of inheritance established. Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome...

Topics

Adult
Aged
Blepharoptosis
Child
Chromosomes, Human, Pair 5
Deafness
Female
Genes, Dominant
Genetic Heterogeneity
Genetic Linkage
Humans
Male
Mandibulofacial Dysostosis
Nuclear Family
Nuclear Proteins
Pedigree
Phenotype
Phosphoproteins

Source

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Identifiers

PMID: 12114479
DOI: 10.1136/jmg.39.7.484
PMCID: PMC1735177

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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