. . . . . . . "[Chromosomal rearrangements with breakpoints mapping up to 1.6?Mb up- and downstream to SOX9, and disrupting its distant cis-regulatory elements, have been described in patients with milder forms of campomelic dysplasia, Pierre Robin sequence, and sex reversal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:16:23+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .