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| Skeletal ciliopathies v0.1 | C2CD3 |
Eleanor Williams gene: C2CD3 was added gene: C2CD3 was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to 24997988; 26044959; 27094867 Phenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200) |
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