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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 Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis American Journal of Ophthalmology. 2002;134(3):465-467 Congenital hypoplastic bone marrow failure associated with a de novo partial deletion of the MECOM gene at 3q26.2 Gene. 2018;656:86-94 Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease Clinical Genetics. 2004;66(6):496-501 Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus Case Reports in Nephrology and Dialysis. 2017;7(3):130-137 Novel splice site mutation in EIF2AK3
gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia Congenital Anomalies. 2017;58(1):39-40 Congenital Diaphragmatic Hernia Congenital Anomalies - From the Embryo to the Neonate. 2018; Congenital Abdominal Anomalies Congenital Anomalies - From the Embryo to the Neonate. 2018; Co-occurrence of a novel PDGFRB
variant and likely pathogenic variant in CASR
in an individual with extensive intracranial calcifications and hypocalcaemia Clinical Case Reports. 2017;6(1):8-13 |
