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Am J Med Genet. 1995 Jul 3;57(3):476-8.

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

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  • 1Department of Pediatrics, Federico II University, Naples, Italy.

Abstract

We report on the clinical and molecular characterization of 3 sibs with X-linked ichthyosis and variable expression of Kallmann syndrome. One of the affected brothers had mild hyposmia and showed normal pubertal progression. However, we demonstrated the same partial deletion of the X-linked Kallmann gene, sparing the first exon in the mildly affected patient as well as in one of his severely affected brothers.

PMID:
7677154
[PubMed - indexed for MEDLINE]
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