Short-rib thoracic dysplasia 8 with or without polydactyly
Short-rib thoracic dysplasia 8 with or without polydactyly
Definition
An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.
Also known as short-rib thoracic dysplasia 8 with or without polydactyly, SRPS6, SRTD8 — per MONDO