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Results 1 - 9 of 9 for Treacher Collins syndrome
  1. Treacher Collins syndrome 
    Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  2. TCOF1 gene 
    ... TCOF1 gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ... the specific problems with facial development found in Treacher Collins syndrome. However, it is unclear why the effects of ...
    https://medlineplus.gov/genetics/gene/tcof1 - Genetics
  3. Mandibulofacial dysostosis with microcephaly 
    ... three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. Am J Med Genet A. 2009 May;149A( ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  4. POLR1D gene 
    ... survival of cells.Based on its involvement in Treacher Collins syndrome, the POLR1D gene appears to play a critical ... POLR1D gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ...
    https://medlineplus.gov/genetics/gene/polr1d - Genetics
  5. POLR1C gene 
    ... survival of cells.Based on its involvement in Treacher Collins syndrome, the POLR1C gene appears to play a critical ... POLR1C gene have been identified in people with Treacher Collins syndrome, a condition that affects the development of bones ...
    https://medlineplus.gov/genetics/gene/polr1c - Genetics
  6. 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
  7. Craniofacial microsomia 
    ... syndrome Otomandibular dysostosis Unilateral intrauterine facial necrosis Unilateral mandibulofacial dysostosis Genetic Testing Registry: Craniofacial microsomia 1 Oculo-auriculo- ...
    https://medlineplus.gov/genetics/condition/craniofacial-microsomia - Genetics
  8. 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
  9. 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