Condition: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
rs200335504
in
IFT81
gene and
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY
PMID 27666822
2016 Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome.