A homozygous CaSR mutation causing a FHH phenotype completely masked by vitamin D deficiency presenting as rickets

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 6, 2014, Pages

  Szczawinska, Dorothea ^a   Schnabel, Dirk ^b   Letz, Saskia ^a   Schöfl, Christof ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; COLECALCIFEROL; PARATHYROID HORMONE; TECALCET;

ADOLESCENT; ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; ASYMPTOMATIC DISEASE; BIOCHEMISTRY; CALCIUM SIGNALING; CASE REPORT; CASR GENE; CLINICAL FEATURE; CODON; DISEASE ASSOCIATION; FAMILIAL HYPOCALCIURIC HYPERCALCEMIA; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; IN VITRO STUDY; MUSCLE WEAKNESS; PARATHYROID HORMONE BLOOD LEVEL; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RICKETS; VALGUS DEFORMITY; VITAMIN D DEFICIENCY;

ADOLESCENT; DIAGNOSIS, DIFFERENTIAL; FEMALE; HOMOZYGOTE; HUMANS; HYPERCALCEMIA; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; RECEPTORS, CALCIUM-SENSING; RICKETS; VITAMIN D DEFICIENCY;

EID: 84902313801     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-3593     Document Type: Article

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