A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor

Hypocalcemia is the hallmark of hypoparathyroidism, which may be inherited either as an isolated endocrinopathy or as part of an autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy or the DiGeorge syndrome, in which developmental defects of the third and fourth pharyngeal pouches result i...

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Veröffentlicht in:	The New England journal of medicine 1996-10, Vol.335 (15), p.1115-1122
Hauptverfasser:	Pearce, Simon H.S, Williamson, Catherine, Kifor, Olga, Bai, Mei, Coulthard, Malcolm G, Davies, Michael, Lewis-Barned, Nicholas, McCredie, David, Powell, Harley, Kendall-Taylor, Pat, Brown, Edward M, Thakker, Rajesh V
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Amino Acid Sequence Base Sequence Biological and medical sciences Calcium - urine Child Child, Preschool Diagnosis, Differential Endocrinopathies Female Genetics Humans Hypocalcemia - diagnosis Hypocalcemia - genetics Hypoparathyroidism - diagnosis Hypoparathyroidism - genetics Male Medical sciences Middle Aged Molecular Sequence Data Mutagenesis Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Parathyroid Hormone - blood Parathyroids. Parafollicular cells. Cholecalciferol. Phosphocalcic homeostasis (diseases) Pedigree Phenotype Point Mutation Polymorphism, Single-Stranded Conformational Receptors, Calcium-Sensing Receptors, Cell Surface - genetics Rodents Syndrome
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