Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
Journal Article
·
· American Journal of Medical Genetics
- Federico II University, Naples (Italy); and others
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. 13 refs., 1 fig., 1 tab.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 105214
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 57; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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