A novel homozygous deletion in the calcium-sensing receptor ligand-binding domain associated with neonatal severe hyperparathyroidism

Journal of Pediatric Endocrinology and Metabolism

Volumn 19, Issue 1, 2006, Pages 93-100

  Ward, Bryan K ^a   Cameron, Fergus J ^b   Magno, Aaron L ^a   McDonnell, Ciara M ^b   Stuckey, Bronwyn G A ^a,c   Ratajczak, Thomas ^a,d  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

Calcium sensing receptor; Neonatal severe hyperparathyroidism; Novel deletion; Parathyroidectomy

Indexed keywords

ALBUMIN; CALCITRIOL; CALCIUM; CALCIUM SENSING RECEPTOR; CREATININE; PARATHYROID HORMONE; PENTAVITE; RESTRICTION ENDONUCLEASE; VITAMIN D;

5' UNTRANSLATED REGION; AMINO ACID SEQUENCE; ARTICLE; BASE MISPAIRING; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; CLINICAL FEATURE; CREATININE URINE LEVEL; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EXON; FOLLOW UP; FRAMESHIFT MUTATION; GENE DELETION; GENE LOCATION; HETEROZYGOTE DETECTION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HYPERCALCEMIA; HYPERPARATHYROIDISM; LIGAND BINDING; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROIDECTOMY; PEDIGREE ANALYSIS; POSTOPERATIVE PERIOD; PREDICTION; PROGNOSIS; PROTEIN DOMAIN; RESTRICTION MAPPING; SEQUENCE ANALYSIS; TREATMENT OUTCOME;

EID: 32944465965     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2006.19.1.93     Document Type: Article

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