Hypoparathyroidism in DiGeorge syndrome

Baldini, Antonio (2004) Hypoparathyroidism in DiGeorge syndrome. Clinical cases in mineral and bone metabolism, 2 (1). pp. 103-105. ISSN 1971-3266

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This brief review summarizes current knowledge concerning clinical characteristics of the hypoparathyroidism in DiGeorge syndrome (DGS) and pathogenetic hypotheses based upon studies in mouse models. Although a DiGeorge syndrome-like phenotype may be etiologically heterogeneous, most cases are caused by a genetic defect, i.e. an interstitial deletion of chromosome 22 named d e l 2 2 q 1 1. We focus on patients with this genetic defect because a) within the population of patients with a DGS-like phenotype, this is the predominant group of patients, and b) both clinical and animal model studies have accumulated a wealth of information unavailable for, and mostly inapplicable to, patients with DGS-like phenotype without d e l 2 2 q 1 1.

Item Type: Article
Additional Information:
Uncontrolled Keywords: Hypoparathyroidism, DiGeorge syndrome
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) > 616.7 Malattie del sistema muscoloscheletrico
Depositing User: Danilo Dezzi
Date Deposited: 18 Apr 2014 12:58
Last Modified: 18 Apr 2014 12:58
URI: http://eprints.bice.rm.cnr.it/id/eprint/8680

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