Activating mutations in the calcium-sensing receptor: Genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - A German survey

Clinical Endocrinology

Volumn 75, Issue 6, 2011, Pages 760-765

  Raue, Friedhelm ^a   Pichl, Josef ^b   Dörr, Helmuth G ^c   Schnabel, Dirk ^d   Heidemann, Peter ^e   Hammersen, Gerhard ^f   Jaursch Hancke, Cornelia ^g   Santen, Reinhard ^h   Schöfl, Christof ^c   Wabitsch, Martin ⁱ   Haag, Christine ^a   Schulze, Egbert ^a   Frank Raue, Karin ^a  

^a Endocrine Practice and Molecular Laboratory   (Germany)

^b St Theresien Hospital   (Germany)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e Children's Hospital   (Germany)

^f Cnopf Childrens Hospital   (Germany)

^g DEUTSCHE KLINIK FÜR DIAGNOSTIK   (Germany)

^h Endocrine Practice   (Germany)

ⁱ UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; COLECALCIFEROL; DIHYDROTACHYSTEROL; MAGNESIUM; THIAZIDE DIURETIC AGENT;

ADULT; AGE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPOCALCEMIA; BASAL GANGLION; BRAIN CALCIFICATION; CALCIUM BLOOD LEVEL; CLINICAL ARTICLE; DISEASE SEVERITY; DRUG EFFECT; FEMALE; GENETIC VARIABILITY; GERMANY; HEALTH SURVEY; HUMAN; HYPERCALCEMIA; HYPOCALCEMIA; KIDNEY CALCIFICATION; LOW DRUG DOSE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; REVIEW; TREATMENT DURATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DATA COLLECTION; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GERMANY; HUMANS; HYPOCALCEMIA; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; RECEPTORS, CALCIUM-SENSING; RETROSPECTIVE STUDIES; YOUNG ADULT;

EID: 80855144843     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2011.04142.x     Document Type: Review

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