title: Genetics of hypoparathyroidism and pseudohypoparathyroidism.
abstract: Congenital hypoparathyroidism encompasses a series of disorders chracterized by the common biochimical feature of symptomatic hypocalcemia with concomitant hypophosphoremia. Clinical features differ among the various parathyroid-related hypocalcemic syndromes, as understandable on the basis of disorder-specific genetics. The present article reviews the various disorders related to both hypoparathyroid and pseudohypoparathyroid conditions, with a detailed report of the recent discoveries in term of the genetics of these syndromes.
authors: Unit of Bone and Mineral Metabolism, Department of Internal Medicine, University of Florence, Medical School, Viale Pieraccini, 6 - 50139 Florence, Italy. m.brandi@dmi.unifi.it
authors: M L
authors: ML
authors: Brandi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D054559:Hyperphosphatemia / Q000209:etiology; D006996:Hypocalcemia / Q000209:etiology / Q000235:genetics; D007011:Hypoparathyroidism / Q000235:genetics* / Q000276:immunology; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics; D011547:Pseudohypoparathyroidism / Q000235:genetics*; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D012640:Seizures / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: C095550:CASR protein, human; C119532:GCM2 protein, human; D009687:Nuclear Proteins; D044169:Receptors, Calcium-Sensing; D014157:Transcription Factors