Autosomal-dominant hypohidrotic ectodermal dysplasia caused by a novel mutation.
Valcuende-Cavero
F
F
Martinez
F
F
Pérez-Pastor
G
G
Oltra
S
S
Ferrer
I
I
Tomás-Cabedo
G
G
Moreno-Presmanes
M
M
D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013546:Sweating / Q000235:genetics*