Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome

Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome

Mutations in the KAL-1 gene localized at Xp22.3 have been shown to be responsible for the X-linked Kallmann syndrome (KS), a disorder characterized by the association of hypogonadotropic hypogonadism and anosmia. In this paper, we describe the investigation of two families with X-linked KS, in which...

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Bibliographic Details
Main Authors: Ericka Barbosa Trarbach, Isabella Lopes Monlleo, Carlos Guilherme Gaelzer Porciuncula, Marshall Italo Barros Fontes, Maria Teresa Mathias Baptista, Christine Hackel
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2004-01-01
Series:Genetics and Molecular Biology
Subjects:
X-linked KS
intragenic deletions
KAL-1 gene
PCR
phenotypic variability
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000300006

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