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

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.

Authors+Show Affiliations

Department of Cell and Structural Biology, University of Manchester, England.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1676560

Citation

Dixon, M J., et al. "The Gene for Treacher Collins Syndrome Maps to the Long Arm of Chromosome 5." American Journal of Human Genetics, vol. 49, no. 1, 1991, pp. 17-22.
Dixon MJ, Read AP, Donnai D, et al. The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet. 1991;49(1):17-22.
Dixon, M. J., Read, A. P., Donnai, D., Colley, A., Dixon, J., & Williamson, R. (1991). The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. American Journal of Human Genetics, 49(1), 17-22.
Dixon MJ, et al. The Gene for Treacher Collins Syndrome Maps to the Long Arm of Chromosome 5. Am J Hum Genet. 1991;49(1):17-22. PubMed PMID: 1676560.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. AU - Dixon,M J, AU - Read,A P, AU - Donnai,D, AU - Colley,A, AU - Dixon,J, AU - Williamson,R, PY - 1991/7/1/pubmed PY - 1991/7/1/medline PY - 1991/7/1/entrez SP - 17 EP - 22 JF - American journal of human genetics JO - Am J Hum Genet VL - 49 IS - 1 N2 - 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. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/1676560/The_gene_for_Treacher_Collins_syndrome_maps_to_the_long_arm_of_chromosome_5_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1676560/ DB - PRIME DP - Unbound Medicine ER -