De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
Author:
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://e-apem.org/upload/pdf/apem-2018-23-2-107.pdf
Reference19 articles.
1. Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation
2. Identification and Functional Characterization of Novel Calcium-Sensing Receptor Mutations in Familial Hypocalciuric Hypercalcemia and Autosomal Dominant Hypocalcemia
3. Mapping of the calcium-sensing receptor gene (CASR) to human Chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat Chromosome 11 and mouse Chromosome 16
4. Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia
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1. Molecular regulation of calcium‐sensing receptor (CaSR)‐mediated signaling;Chronic Diseases and Translational Medicine;2024-04-29
2. Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia;European Journal of Endocrinology;2024-03-30
3. Disorders of Calcium and Phosphorus Metabolism;Avery's Diseases of the Newborn;2024
4. Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures;Children;2023-06-03
5. Presentation and management of hypoparathyroidism in a paediatric patient - a case report;Journal of the Pakistan Medical Association;2023-02-15
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