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Article

A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects

1 Nov 1994

Abstract excerpt

X-linked recessive ichthyosis (XLI) is caused by a deletion, or mutation, of the steroid sulphatase gene on the distal short arm of the X chromosome (Xp22.3). This region of the X chromosome is particularly susceptible to deletions. Such deletions can occasionally extend to involve neighbouring genes, causing a contiguous gene defect. Therefore, XLI may be associated with Kallmann's syndrome (KS), mental...

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PMID: 7999591
DOI: 10.1111/j.1365-2133.1994.tb04972.x

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A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defectsPMID 7999591Read ↗

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