Condition: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY


rs367600930 in CEP120 gene and SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY PMID 25361962 2015 A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.