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| De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism | |
| Jung-Eun Moon, Su-Jeong Lee, Suk-Hyun Park, Jinsup Kim, Dong-Kyu Jin, Cheol Woo Ko | |
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Ann Pediatr Endocrinol Metab. 2018;23(2):107-111. Published online June 20, 2018 DOI: https://doi.org/10.6065/apem.2018.23.2.107 |
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De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism Annals of Pediatric Endocrinology & Metabolism. 2018;23(2):107-111  Novel de novo pathogenic variant in the NR2F2
gene in a boy with congenital heart defect and dysmorphic features American Journal of Medical Genetics Part A. 2018;176(6):1423-1426 eP168: A de novo variant in AMOTL1 gene in an adult with craniofacial abnormalities and previously unreported congenital diaphragmatic hernia Genetics in Medicine. 2022;24(3):S102 Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus Case Reports in Nephrology and Dialysis. 2017;7(3):130-137 CORRIGENDUM FOR “A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness” Journal of the Endocrine Society. 2020;4(6): A novel de novo
SLC26A3
mutation causing congenital chloride diarrhea in a Japanese neonate Molecular Genetics & Genomic Medicine. 2020;8(11): SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant Journal of the Endocrine Society. 2020;4(Supplement_1): Congenital Central Hypoventilation Syndrome Caused by A de novo RET Pathogenic Variant . 2021; Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection Meta Gene. 2020;24:100698 Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy Genes. 2020;11(11):1238 |
