Variable Penetrance of Hypogonadism in a Sibship with Kallmann Syndrome Due to a Deletion of the KAL Gene

Overview

Journal Am J Med Genet

Specialty Genetics

Date 1995 Jul 3

PMID 7677154

Citations 9

Authors

G Parenti

M G Rizzolo

M Ghezzi

S Di Maio

M P Sperandeo

B Incerti

B Franco

A Ballabio

G Andria

Affiliations

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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.

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