X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

doi:10.1210/jc.2002-021981

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Article

X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

The Journal of clinical endocrinology and metabolism - 1 May 2003

Massin Nathalie, Pêcheux Christophe, Eloit Corinne, Bensimon Jean-Louis, Galey Julie, Kuttenn Frédérique, Hardelin Jean-Pierre, Dodé Catherine, Touraine Philippe

Abstract excerpt

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia. The gene underlying the X chromosome-linked form of the disease, KAL-1, consists of 14 coding exons. It encodes a glycoprotein, anosmin-1, which is involved in the embryonic migration of GnRH-synthesizing neurons and the differentiation of the olfactory bulbs. We describe herein the clinical heterogeneity in...

Topics

Adolescent
Adult
Body Height
Cell Adhesion Molecules
Chromosomes, Human, X
Exons
Extracellular Matrix Proteins
Gene Deletion
Genetic Linkage
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypogonadism

Kallmann Syndrome

Magnetic Resonance Imaging

Male

Nerve Tissue Proteins

Olfaction Disorders

Olfactory Bulb

Phenotype

Source

Open in PubMed

Identifiers

PMID: 12727945
DOI: 10.1210/jc.2002-021981

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