Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene

European Journal of Pediatrics

Volumn 168, Issue 5, 2009, Pages 569-573

  Obermannova, Barbora ^b   Banghova, Karolina ^a   Sumník, Zdenek ^a   Dvorakova, Hana M ^a   Betka, Jan ^a   Fencl, Filip ^a   Kolouskova, Stanislava ^a   Cinek, Ondrej ^a   Lebl, Jan ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

Author keywords

Bisphosphonates; Hypercalcaemia; Newborn; Parathyroidectomy; Primary hyperparathyroidism

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; CALCIUM; DIHYDROTACHYSTEROL; GENOMIC DNA; PAMIDRONIC ACID; RNA;

ALLELE; ANAMNESIS; ARTICLE; CALCIUM METABOLISM; CASE REPORT; CASR GENE; CLINICAL FEATURE; DISEASE SEVERITY; FOLLOW UP; FRACTURE HEALING; GENE; GENETIC ANALYSIS; GESTATIONAL AGE; HETEROZYGOSITY; HUMAN; HYPERCALCEMIA; LABORATORY TEST; MALE; MENTAL DISEASE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NEWBORN DISEASE; PARATHYROIDECTOMY; PHENOTYPE; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSIENT HYPOGAMMAGLOBULINEMIA OF INFANCY;

ADULT; FEMALE; HETEROZYGOTE; HUMANS; HYPERCALCEMIA; HYPERPARATHYROIDISM; INFANT, NEWBORN; PARATHYROIDECTOMY; PHENOTYPE; POINT MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTORS, CALCIUM-SENSING; SEVERITY OF ILLNESS INDEX; VITAMIN D DEFICIENCY;

EID: 62949087975     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-008-0794-y     Document Type: Article

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