Condition: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY


rs587777065 in WDR60 gene and SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY PMID 23910462 2013 Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

PMID 25492405 2015 Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies.