X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.

doi:10.1002/ajmg.1320590205

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Article

X-linked ichthyosis without STS deficiency: clinical, genetical, and molecular studies.

American journal of medical genetics - 6 Nov 1995

Robledo R, Melis P, Schillinger E, Casciano I, Balazs I, Rinaldi A, Siniscalco M, Filippi G

Abstract excerpt

We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked reces...

Topics

Arylsulfatases
Female
Genetic Linkage
Genetic Markers
Humans
Ichthyosis, X-Linked
Male
Mutation
Pedigree
Phenotype
Steryl-Sulfatase
X Chromosome

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