Short-rib thoracic dysplasia with or without polydactyly 05
Short-rib thoracic dysplasia with or without polydactyly type 5 is an autosomal recessive disorder caused by mutations in the WDR19 gene.
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Schmidts M et. al. (2013) Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy.[^]
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