title: Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: expanding the phenotype and implications for desmoplakin function in skin and heart.
authors.affiliation: Department of Dermatology, University Medical Center Groningen, Hanzeplein 1, 9713 GZ Groningen, the Netherlands. m.c.bolling@derm.umcg.nl
authors.forename: M C
authors.initials: MC
authors.lastname: Bolling
authors.forename: M J
authors.initials: MJ
authors.lastname: Veenstra
authors.forename: M F
authors.initials: MF
authors.lastname: Jonkman
authors.forename: G F H
authors.initials: GF
authors.lastname: Diercks
authors.forename: C J
authors.initials: CJ
authors.lastname: Curry
authors.forename: J
authors.initials: J
authors.lastname: Fisher
authors.forename: H H
authors.initials: HH
authors.lastname: Pas
authors.forename: A L
authors.initials: AL
authors.lastname: Bruckner
mesh_terms: 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
chemical_list: D051180:Desmoplakins