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Treacher Collins syndrome 2
- ... SYNDROME 1; TCS1 TREACHER COLLINS SYNDROME 3; TCS3 TREACHER COLLINS SYNDROME 2; TCS2 PubMed Barbosa M, Jabs EW, Huston S. ... WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223-33. Citation on PubMed Posnick JC, Ruiz ...
- ... MANDIBULOFACIAL DYSOSTOSIS; DBA14 DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15 DIAMOND-BLACKFAN ANEMIA 2; DBA2 DIAMOND-BLACKFAN ANEMIA 4; DBA4 DIAMOND-BLACKFAN ...
- ... of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012 Feb 10;90(2):369-77. doi: 10.1016/j.ajhg.2011. ...
- ... syndrome Otomandibular dysostosis Unilateral intrauterine facial necrosis Unilateral mandibulofacial dysostosis Genetic Testing Registry: Craniofacial microsomia 1 Oculo-auriculo- ...
- ... Nager acrofacial dysostosis syndrome Preaxial acrofacial dysostosis Preaxial mandibulofacial dysostosis Genetic Testing Registry: Nager syndrome Nager syndrome National ...