The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

doi:10.1002/ajmg.a.36172

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Article

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

American journal of medical genetics. Part A - 1 Nov 2013

Caluseriu Oana, Lowry Brian R, McLeod Ross, Lamont Ryan, Parboosingh Jillian S, Bernier Francois P, Innes A Micheil

Abstract excerpt

Treacher Collins syndrome (TCS), the best known form of mandibulofacial dysostosis (MFD) comprises a recognizable pattern of anomalies. In 1985, Lowry et al. reported on two Hutterite sisters born to apparently unaffected parents with TCS, raising the possibility of an autosomal recessive (AR) variant of TCS, subsequently given a unique Mendelian Inheritance of Man (MIM) number (248390). Recently, biallelic...

Topics

Abnormalities, Multiple
Adolescent
Adult
Child
Child, Preschool
Facies
Female
Genotype
Humans
Infant
Karyotyping
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mandibulofacial Dysostosis

Mutation

Nuclear Proteins

Phenotype

Phosphoproteins

Young Adult

Source

Open in PubMed

Identifiers

PMID: 24108658
DOI: 10.1002/ajmg.a.36172

Genes

TCOF1

Provenance

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

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