Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.6.1 (
sulfatase
)
3,205
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient. 2052 32
