OBO ID: DOID:0110097

Citations

(1 total)

Term: short-rib thoracic dysplasia 9 with or without polydactyly

Helm, B.M., Willer, J.R., Sadeghpour, A., Golzio, C., Crouch, E., Vergano, S.S., Katsanis, N., Davis, E.E. (2017) Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome. Human genomics. 11:16