Short-rib thoracic dysplasia with or without polydactyly 13
Short-rib thoracic dysplasia with or without polydactyly type 13 is an autosomal recessive disorder caused by mutations in the CEP120 gene.
Shaheen R et. al. (2015) A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.[^]
Roosing S et. al. (2016) Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.[^]