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.
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene / Parenti, Giancarlo; Rizzolo, Mg; Ghezzi, M; DI MAIO, S; Sperandeo, Mp; Incerti, B; Franco, Brunella; Ballabio, Andrea; Andria, Generoso. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 57:(1995), pp. 476-478.
Variable penetrance of hypogonadism in a sibship with Kallamann syndrome due to a deletion of the KAL gene
PARENTI, GIANCARLO;FRANCO, BRUNELLA;BALLABIO, ANDREA;ANDRIA, GENEROSO
1995
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
