[The genetics and molecular genetics of X-chromosomal recessive ichthyosis].
X-linked ichthyosis has been shown to be associated with the deficiency of the steroid sulfatase/arylsulfatase C. The molecular biological results are reviewed concerning the localization of the steroid sulfatase gene to the distal short arm of the X chromosome and the molecular defects of this gene in patients of X-linked ichthyosis. The conclusions are summarized for genetic counselling, carrier detection and prenatal diagnosis.
Herrmann
F H
FH
D015342:DNA Probes; D005260:Female; D005808:Genes, Recessive; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
D015342:DNA Probes
Zur Genetik und Molekulargenetik der X-chromosomalen rezessiven Ichthyose.