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From Genetics to Neurobiology

Elena I. Rugarli, MD; Andrea Ballabio, MD

JAMA. 1993;270(22):2713-2716.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

IN THE last few years, numerous discoveries in the field of human genetics have had a significant impact both on medical practice and on basic science. Kallmann syndrome represents the first human disease caused by a neuronal migration defect for which the gene has been identified and is a good example of how genetics has permitted the integration of clinical observation with developmental biology, contributing to the understanding of disease pathogenesis. The purpose of this article is to review the clinical, biological, and molecular genetic aspects of Kallmann syndrome and to discuss their correlation.

CLINICAL FEATURES AND PATHOGENESIS

Kallmann syndrome is an inherited disorder, defined by the association of hypogonadism and anosmia. Since the description of the first patients by Kallmann in 1944, many familial and sporadic cases have been reported.^1-3 Autosomal dominant, autosomal recessive, and X-linked recessive inheritance patterns have been described, indicating genetic heterogeneity.^2,3 The incidence of . . . [Full Text PDF of this Article]

Author Affiliations
From the Institute for Molecular Genetics, Baylor College of Medicine, Houston, Tex.

Footnotes
Reprint requests to the Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 (Dr Rugarli).

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