. . . . . . . "[Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been described in individuals presenting mainly with caf� au lait macules (CALMs), axillary freckling, and macrocephaly.]. 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 . "2017-10-17T13:19:09+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .