Am J Hum Genet. 1991 Jul;49(1):17-22.

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R.

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Department of Cell and Structural Biology, University of Manchester, England.

Abstract

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

PMID:: 1676560; [PubMed - indexed for MEDLINE]
PMCID:: PMC1683211

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Wellcome Trust/United Kingdom

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Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. [Genomics. 1991]
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Cited by 11 PubMed Central articles

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The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
Am J Hum Genet. 1991 Jul ;49(1):17-22.

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