Associated Papers
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA et al.
European Journal of Human Genetics : Ejhg, 2004
TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
Wise CA et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
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