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| Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes | |
| Ana Gutierrez Alvarez, Naomi Yachelevich, Brenda Kohn, Preneet Cheema Brar | |
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Ann Pediatr Endocrinol Metab. 2021;26(4):284-289. Published online October 14, 2021 DOI: https://doi.org/10.6065/apem.2142056.028 |
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Genotype - phenotype correlation in an adolescent girl with pathogenic PPARy genetic variation that caused severe hypertriglyceridemia and early onset type 2 diabetes Annals of Pediatric Endocrinology & Metabolism. 2021;26(4):284-289  New mutation in SCN8A gene associated severe developmental and epileptic encephalopathy type 13: the importance of genetic test and genotype-phenotype correlation Arquivos de Neuro-Psiquiatria. 2023; PSUN267 New-Onset Type 1 Diabetes (T1D) In a Child Presenting With Diabetic Ketoacidosis (DKA) and Severe Hypertriglyceridemia Without Pancreatitis Journal of the Endocrine Society. 2022;6(Supplement_1):A398-A399 A novel pathogenic variation of DOCK6 gene: the genotype-phenotype correlation in Adams-Oliver syndrome Molecular Biology Reports. 2023;50(6):5519-5521 Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysis BMC Ophthalmology. 2022;22(1): The thrifty genotype versus thrifty phenotype debate: efforts to explain between population variation in rates of type 2 diabetes and cardiovascular disease Western Diseases. 2001;50-74 Observations�Maturity onset diabetes of the young (MODY) and early onset Type II diabetes are not caused by loss of imprinting at the transient neonatal diabetes (TNDM) locus Diabetologia. 2001;44(7):924-924 Triple genetic variation in the HNF-4α gene is associated with early-onset type 2 diabetes mellitus in a philippino family Metabolism. 2004;53(8):959-963 Early-Onset Type 2 Diabetes Misdiagnosed as Type 1 Diabetes in a 15-Year-Old Nigerian Girl: A Case Report Case Reports in Clinical Medicine. 2020;09(04):107-114 Dopa-responsive dystonia or early-onset Parkinson disease – Genotype–phenotype correlation Neurologia i Neurochirurgia Polska. 2017;51(1):1-6 |
