Article
Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.
The Journal of clinical endocrinology and metabolism - 1 Oct 2006
Trarbach Ericka Barbosa, Costa Elaine Maria Frade, Versiani Beatriz, de Castro Margaret, Baptista Maria Tereza Matias, Garmes Heraldo Mendes, de Mendonca Berenice Bilharinho, Latronico Ana Claudia
Abstract excerpt
CONTEXT: Kallmann syndrome is a clinically and genetically heterogeneous disorder. To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1) have been described in the X-linked and autosomal dominant forms of this syndrome, respectively. OBJECTIVE: The objective was to investigate genetic defects in the KAL1 and FGFR1 genes in patients with...
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