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Results 1 - 9 of 9 for Treacher Collins syndrome 1
  1. Mandibulofacial dysostosis with microcephaly 
    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 ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  2. 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
  3. Treacher Collins syndrome 
    ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov TREACHER COLLINS SYNDROME 1; TCS1 TREACHER COLLINS SYNDROME 3; TCS3 TREACHER COLLINS ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  4. Nager syndrome 
    ... Nager acrofacial dysostosis syndrome Preaxial acrofacial dysostosis Preaxial mandibulofacial dysostosis Genetic Testing Registry: Nager syndrome Nager syndrome National ...
    https://medlineplus.gov/genetics/condition/nager-syndrome - Genetics
  5. Craniofacial microsomia 
    ... syndrome Otomandibular dysostosis Unilateral intrauterine facial necrosis Unilateral mandibulofacial dysostosis Genetic Testing Registry: Hemifacial microsomia Craniofacial microsomia Goldenhar ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  6. 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
  7. Diamond-Blackfan anemia 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - Genetics
  8. 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
  9. 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