Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
Bolling
M C
MC
Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands. m.c.bolling@derm.umcg.nl
Veenstra
M J
MJ
Jonkman
M F
MF
Diercks
G F H
GF
Curry
C J
CJ
Fisher
J
J
Pas
H H
HH
Bruckner
A L
AL
D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D003241:Consanguinity; D051180:Desmoplakins / Q000235:genetics*; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
D051180:Desmoplakins