Novel human pathological mutations. Gene symbol: WNT7A. Disease: ulnar and fibula absence, with severe limb deficiency.
Balwi
Mohammed Al
MA
King Abdulaziz Medical City, Molecular Patholody & Genetics, Riyadh, Saudi Arabia. balwim@ngha.med.sa
D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics; D005360:Fibula / Q000002:abnormalities*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D014457:Ulna / Q000002:abnormalities*; D051153:Wnt Proteins / Q000235:genetics*
D003062:Codon; C092778:WNT7A protein, human; D051153:Wnt Proteins