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

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Keywords

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