A case of mosaicism in ectodermal dysplasia-skin fragility syndrome.
Department of Dermatology, Hospital Universitario de Cabueñes, Gijón, Spain.
I
I
Vázquez-Osorio
Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.
N
N
Chmel
Department of Dermatology, Hospital Universitario de Cabueñes, Gijón, Spain.
E
E
Rodríguez-Díaz
Department of Pathology, Hospital Universitario de Cabueñes, Gijón, Spain.
P
P
Gonzalvo-Rodríguez
Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.
R
R
Happle
Molecular Medicine Unit, Department of Medicine, Facultad de Medicina de Salamanca, Salamanca, Spain.
E
E
Bueno
Department of Dermatology, Freiburg University Medical Center, Freiburg, Germany.
C
C
Has
Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain.
A
0000-0002-5940-6916
A
Torrelo
D002675:Child, Preschool; D018076:DNA, Complementary / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D009030:Mosaicism; D009154:Mutation / Q000235:genetics; D051191:Plakophilins / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology
D018076:DNA, Complementary; C495335:PKP1 protein, human; D051191:Plakophilins