Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.
Nagy
Nikoletta
N
Wedgeworth
Emma
E
Hamada
Takahiro
T
White
Jonathan M
JM
Hashimoto
Takashi
T
McGrath
John A
JA
D000368:Aged; D001483:Base Sequence; D018389:Codon, Nonsense; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005141:Eyelid Diseases / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D009260:Nail Diseases / Q000235:genetics*; D013577:Syndrome; D051153:Wnt Proteins / Q000235:genetics*
D018389:Codon, Nonsense; C484142:WNT10A protein, human; D051153:Wnt Proteins