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- W2022401919 abstract "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.1-3Autosomal dominant, autosomal recessive, and X-linked recessive inheritance patterns have been described, indicating genetic heterogeneity.2,3The incidence of" @default.
- W2022401919 created "2016-06-24" @default.
- W2022401919 creator A5012477668 @default.
- W2022401919 date "1993-12-08" @default.
- W2022401919 modified "2023-10-11" @default.
- W2022401919 title "Kallmann syndrome. From genetics to neurobiology" @default.
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- W2022401919 doi "https://doi.org/10.1001/jama.270.22.2713" @default.
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