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Results 1 - 10 of 13 for Treacher Collins syndrome 1
  1. Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small ...
  2. ... Condition TCOF_HUMAN TCS Treacher Collins syndrome protein Treacher Collins-Franceschetti syndrome 1 treacle Tests of TCOF1 PubMed TREACLE RIBOSOME BIOGENESIS ...
  3. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov TREACHER COLLINS SYNDROME 1; TCS1 TREACHER COLLINS SYNDROME 3; TCS3 TREACHER COLLINS ...
  4. Treacher Collins syndrome is a genetic condition that leads to problems with the structure of the face. Most cases are not passed ...
  5. ... Nager acrofacial dysostosis syndrome Preaxial acrofacial dysostosis Preaxial mandibulofacial dysostosis Genetic Testing Registry: Nager syndrome Nager syndrome National ...
  6. ... syndrome Otomandibular dysostosis Unilateral intrauterine facial necrosis Unilateral mandibulofacial dysostosis Genetic Testing Registry: Craniofacial microsomia 1 Craniofacial microsomia ...
  7. ... 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; ...
  8. ... ANEMIA 1; DBA1 DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 DIAMOND-BLACKFAN ANEMIA 2; DBA2 DIAMOND-BLACKFAN ...
  9. ... 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. ...
  10. ... 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. ...
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