[FGFR2 sequencing revealed a c.870G>T transversion in exon 8, which is predicted to encode a Trp290Cys substitution.The clinical features of severe exophthalmos and other features typical of PS without craniosynostosis were most consistent with a diagnosis of PS type III.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE