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Results 1 - 7 of 7 for Treacher Collins syndrome 3
  1. Treacher Collins syndrome 
    ... NORD) ClinicalTrials.gov TREACHER COLLINS SYNDROME 1; TCS1 TREACHER COLLINS SYNDROME 3; TCS3 TREACHER COLLINS SYNDROME 2; TCS2 PubMed Barbosa M, Jabs EW, Huston ...
    https://medlineplus.gov/genetics/condition/treacher-collins-syndrome - Genetics
  2. Mandibulofacial dysostosis with microcephaly 
    ... Lines M, Hartley T, MacDonald SK, Boycott KM. Mandibulofacial Dysostosis with Microcephaly. 2014 Jul 3 [updated 2023 Apr 6]. In: Adam MP, Feldman ... preauricular tags, choanal atresia and developmental delay in three unrelated patients: ... dysostosis distinct from Treacher Collins syndrome. Am J Med ...
    https://medlineplus.gov/...dibulofacial-dysostosis-with-microcephaly - Genetics
  3. EFTUD2 gene 
    ... Lines M, Hartley T, MacDonald SK, Boycott KM. Mandibulofacial Dysostosis with Microcephaly. 2014 Jul 3 [updated 2023 Apr 6]. In: Adam MP, Feldman ...
    https://medlineplus.gov/genetics/gene/eftud2 - Genetics
  4. POLR1D gene 
    ... AC2 RPA16 RPA9 RPAC2 RPAC2_HUMAN RPC16 RPO1-3 Tests of POLR1D PubMed POLYMERASE I, RNA, SUBUNIT D; POLR1D NCBI Gene ClinVar Barbosa M, Jabs EW, Huston S. Treacher Collins Syndrome. 2004 Jul 20 [updated 2024 Jun 20]. In: ...
    https://medlineplus.gov/genetics/gene/polr1d - Genetics
  5. Diamond-Blackfan anemia 
    ... MANDIBULOFACIAL DYSOSTOSIS; DBA14 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 DIAMOND-BLACKFAN ANEMIA 2; DBA2 DIAMOND-BLACKFAN ANEMIA 4; DBA4 DIAMOND-BLACKFAN ANEMIA 5; DBA5 DIAMOND-BLACKFAN ANEMIA 3; DBA3 DIAMOND-BLACKFAN ANEMIA 12; DBA12 DIAMOND-BLACKFAN ...
    https://medlineplus.gov/genetics/condition/diamond-blackfan-anemia - 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