V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl.
Toll
Agustí
A
Department of Dermatology, Hospital del Mar, IMAS, Barcelona, Spain.
Vincent
Marie-Claire
MC
Calvas
Patrick
P
Pujol
Ramon M
RM
D000328:Adult; D041321:Chromosomes, Human, X; D018389:Codon, Nonsense; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology*; D053331:Ectodysplasins / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics / Q000473:pathology; D007007:Hypohidrosis / Q000235:genetics / Q000473:pathology; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology*; D009030:Mosaicism; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics* / Q000473:pathology*
D018389:Codon, Nonsense; C506018:EDA protein, human; D053331:Ectodysplasins