A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema: PTPN14 mutation in lymphedema-choanal atresia
Keywords: PTPN14; protein tyrosine phosphatase, non-receptor type 14; VEGFR3; vascular endothelial growth factor receptor 3; FOXC2; forkhead box C2; CCBE1; collagen and calcium binding EGF domains 1; SOX18; SRY-box 18; KIF11; kinesin family member 11; IKBKG; inhibi