X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated
Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder. In this report we have inves...
Abstract Background X-linked ichthyosis (XLI) is a recessive keratinization condition caused by defi...
Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant in...
[Background]: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused b...
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blist...
X-linked ichthyosis is an inherited disorder due to steroid sulfatase deficiency. It is clinically c...
Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the F...
Background Dystrophic epidermolysis bullosa (DEB) is a bullous skin disease caused by mutations in ...
Abstract: Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bull...
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) ...
Mutations in the type VII collagen gene (COL7A1) are known to underlie different forms of the inheri...
Introduction: Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persis...
SummaryWe describe two familial cases of dominant dystrophic epidermolysis bullosa (DDEB) that are h...
Background X-linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males;...
We analyzed the steroid sulfatase (STS) gene in nine Japanese patients with X-linked ichthyosis (XLI...
Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder. In this report we have inves...
Abstract Background X-linked ichthyosis (XLI) is a recessive keratinization condition caused by defi...
Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant in...
[Background]: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused b...
Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blist...
X-linked ichthyosis is an inherited disorder due to steroid sulfatase deficiency. It is clinically c...
Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the F...
Background Dystrophic epidermolysis bullosa (DEB) is a bullous skin disease caused by mutations in ...
Abstract: Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bull...
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) ...
Mutations in the type VII collagen gene (COL7A1) are known to underlie different forms of the inheri...
Introduction: Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persis...
SummaryWe describe two familial cases of dominant dystrophic epidermolysis bullosa (DDEB) that are h...
Background X-linked ichthyosis (XLI) is a rare genetic condition almostexclusively affecting males;...
We analyzed the steroid sulfatase (STS) gene in nine Japanese patients with X-linked ichthyosis (XLI...
Dystrophic epidermolysis bullosa (DEB) is a rare genetic skin disorder. In this report we have inves...
Abstract Background X-linked ichthyosis (XLI) is a recessive keratinization condition caused by defi...
Mutations in the type VII collagen gene (COL7A1) cause autosomal recessive and autosomal dominant in...