Journal article

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

BK Ward, FJ Cameron, AL Magno, CM McDonnell, BGA Stuckey, T Ratajczak

Journal of Pediatric Endocrinology and Metabolism | WALTER DE GRUYTER GMBH | Published : 2006

DOI: 10.1515/jpem.2006.19.1.93

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Keywords

Protein Structure, Tertiary
Infant, Newborn
Calcium-Sensing Receptor
Neonatal Severe Hyperparathyroidism
Parathyroidectomy
Intermolecular Interactions
Male
Science & Technology
Ca2+-Sensing Receptor
Parathyroid Glands
Receptors, Calcium-Sensing
Gene
Endocrinology & Metabolism
Frameshift Mutation
Novel Deletion
Familial Hypocalciuric Hypercalcemia
Mutations
Hyperparathyroidism
Parathyroid Hormone
Pedigree
Pediatrics
Disorders
Gene Deletion
Life Sciences & Biomedicine
Humans
Severity of Illness Index