. . . . . . . . . . . . "[In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial-deafness-hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2015-02-21"^^ . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2015-08-25T14:37:54+02:00"^^ . . . . . . . . . . . "v3.0.0.0" . "v3.0.0" .