title: Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen.
abstract: Bullous dermolysis of the newborn is an inherited mechano-bullous disorder classed as a rare subtype of dystrophic epidermolysis bullosa. Fewer than 30 cases of bullous dermolysis of the newborn have been reported in the literature and the pathogenesis of the disease is poorly understood. Only a minority of cases have had pathogenic mutations identified. We present a case of a neonate born to non-consanguineous Caucasian parents with an exon 54 (c.5017G > A, p.G1673R) mutation reported as one mutant allele in a case of recessive dystrophic epidermolysis bullosa (generalized other).
authors: Department of Dermatology, St George Hospital, University of New South Wales, Sydney, Australia.
authors: John
authors: J
authors: Frew
authors: Shueh W
authors: SW
authors: Lim
authors: Alfred
authors: A
authors: Klausseger
authors: Chung W
authors: CW
authors: Chow
authors: Kim
authors: K
authors: Tran
authors: John
authors: J
authors: Su
authors: David
authors: D
authors: Orchard
authors: George
authors: G
authors: Varigos
authors: Daisuke
authors: D
authors: Sawamura
authors: Wataru
authors: W
authors: Nishie
authors: Hiroshi
authors: H
authors: Shimizu
authors: Dédée F
authors: DF
authors: Murrell
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense
chemical_list: D024143:Collagen Type VII