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Results 1 - 4 of 4 for Treacher Collins syndrome 1
  1. TCOF1 gene 
    ... Condition TCOF_HUMAN TCS Treacher Collins syndrome protein Treacher Collins-Franceschetti syndrome 1 treacle Tests of TCOF1 PubMed TREACLE RIBOSOME BIOGENESIS ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  2. EFTUD2 gene 
    ... mutations have been identified in people who have mandibulofacial dysostosis with microcephaly (MFDM). This disorder causes malformations of ... A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol. 2006 Jul; ...
    https://medlineplus.gov/genetics/gene/eftud2 - Genetics
  3. POLR1C gene 
    ... subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Citation on PubMed Fisher E. Exploring the genetic origins of Treacher Collins syndrome. Clin Genet. 2011 Apr;79(4):330-2. ...
    https://medlineplus.gov/genetics/gene/polr1c - Genetics
  4. POLR1D gene 
    ... subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5. Citation on PubMed Fisher E. Exploring the genetic origins of Treacher Collins syndrome. Clin Genet. 2011 Apr;79(4):330-2. ...
    https://medlineplus.gov/genetics/gene/polr1d - Genetics