We report the first direct molecular prenatal diagnosis, undertaken for the autosomal dominant form of dystrophic epidermolysis bullosa (DDEB). The proband had a moderately severe form of DDEB, with episodic blistering of skin and mucosal involvement. Diagnostic histopathological examination, using electron microscopy to evaluate skill from a fresh blister, demonstrated a zone of cleavage beneath the epidermal-dermal junction, thereby assigning the EB as dystrophic. DNA analysis of COL7A1, the gene encoding type VII collagen, identified a heterozygous transversion (G to A) in the triple helix domain (G2043R). For any subsequent pregnancy, the affected mother and the unaffected father of the proband requested prenatal prediction, which was t...
Dystrophic epidermolysis bullosa (DEB), a heterogeneous hereditary skin disorder characterized by tr...
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen ge...
Recent advances in the field of genomics have seen the successful implementation of whole exome sequ...
Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated th...
Copyright © 2014 Nicole Colgrove et al.This is an open access article distributed under theCreative ...
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly ...
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly ...
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly ...
We perfomed fetoscopy and skin biopsy on a 10-week fetus at risk for recessive dystrophic epidermoly...
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into thr...
Abstract Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations i...
Prenatal diagnosis is now possible for functional and recessive dystrophic forms of epidermolysis bu...
Genetic mutations invalidating the genes for integrin α6β4 and, in some cases, plectin are associate...
Dystrophic epidermolysis bullosa (DEB) is a hereditary mechanobullous disorder characterized by frag...
We identified the mutations in two patients with different phenotypes of dystrophic epidermolysis bu...
Dystrophic epidermolysis bullosa (DEB), a heterogeneous hereditary skin disorder characterized by tr...
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen ge...
Recent advances in the field of genomics have seen the successful implementation of whole exome sequ...
Linkage analyses in generalized recessive dystrophic epidermolysis bullosa (RDEB) have implicated th...
Copyright © 2014 Nicole Colgrove et al.This is an open access article distributed under theCreative ...
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly ...
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly ...
BackgroundDystrophic epidermolysis bullosa (DEB) is an incurable and inherited skin disorder mainly ...
We perfomed fetoscopy and skin biopsy on a 10-week fetus at risk for recessive dystrophic epidermoly...
Epidermolysis bullosa (EB) is a group of heritable mechano-bullous skin diseases classified into thr...
Abstract Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations i...
Prenatal diagnosis is now possible for functional and recessive dystrophic forms of epidermolysis bu...
Genetic mutations invalidating the genes for integrin α6β4 and, in some cases, plectin are associate...
Dystrophic epidermolysis bullosa (DEB) is a hereditary mechanobullous disorder characterized by frag...
We identified the mutations in two patients with different phenotypes of dystrophic epidermolysis bu...
Dystrophic epidermolysis bullosa (DEB), a heterogeneous hereditary skin disorder characterized by tr...
The dystrophic forms of epidermolysis bullosa (DEB) are due to mutations in the type VII collagen ge...
Recent advances in the field of genomics have seen the successful implementation of whole exome sequ...