X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)
Martínez
F
F
Millán
J M
JM
Orellana
C
C
Prieto
F
F
D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D014960:X Chromosome