Condition: SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
rs587777079
in
IFT172
gene and
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
PMID 24140113
2013 Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.