The hutterite variant of treacher collins syndrome: A 28-year-old story solved-Reference-Cited by-同舟云学术

The hutterite variant of treacher collins syndrome: A 28-year-old story solved

Published:2013-09-24 Issue:11 Volume:161 Page:2855-2859
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Caluseriu Oana¹²,Lowry Brian R.¹³⁴,McLeod Ross¹⁴,Lamont Ryan¹⁵,Parboosingh Jillian S.¹³⁵,Bernier Francois P.¹³,Innes A. Micheil¹³

Affiliation:

1. Department of Medical Genetics; University of Calgary; Calgary AB Canada

2. Department of Medical Genetics; University of Alberta; Edmonton AB Canada

3. Alberta Children's Hospital Research Institute; Calgary AB Canada

4. Department of Pediatrics; University of Calgary; Calgary AB Canada

5. Genetic Laboratory Services; Alberta Health Services; Calgary AB Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference14 articles.

1. Clinical genetics and the Hutterite population: A review of Mendelian disorders;Boycott;Am J Med Genet Part A,2008

2. Mutations in genes encoding subunits of RNA polymerase I and III cause Treacher Collins syndrome;Dauwerse;Nat Genet,2011

3. Sequence analysis, identification of evolutionarily conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1;Dixon;Hum Mol Genet,1997

4. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature termination codon;Edwards;Am J Hum Genet,1997

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5. Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations;Molecular Genetics and Genomics;2017-12-11