Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference16 articles.
1. Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism-lack of effect of cinacalcet;Atay;Bone,2014
2. Unusual case of neonatal hypoercalcemia;Brickman;Int. J. Pediatr. Otorhinolaryngol.,2015
3. Calcium Sensing Receptor Database. http://www.casrdb.mcgill.ca/. Accessed May 26, 2015.
4. Unexpected exome sequencing result: de novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity;Casci;Am. J. Med. Genet. Part A,2014
5. Neonatal Hyperparathyroidism Therapy in an extremely premature infant;Fox;Pediatrics,2007
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1. Neonatal Severe Hyperparathyroidism Causing Life-Threatening Hypercalcemia Treated With Medical and Surgical Management;JCEM Case Reports;2024-07-24
2. Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia;Frontiers in Endocrinology;2024-02-29
3. Cinacalcet therapy in a child with novel homozygous casr p.glu353lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature;The Turkish Journal of Pediatrics;2023
4. The Calcium‐Sensing Receptor ( CaSR ) in Disease;GPCRs as Therapeutic Targets;2022-09-16
5. A Novel Missense CASR Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia;AACE Clinical Case Reports;2022-09
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