| Autor: |
Ceren, Yılmaz Uzman, İbrahim Mert, Erbaş, Özlem, Giray Bozkaya, Ahu, Paketçi, Ahmet Okay, Çağlayan, Ayhan, Abacı, Melike Ataseven, Kulalı, Ece, Böber, Arda, Kekilli, Tayfun, Çinleti, Murat Derya, Erçal, Korcan, Demir |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Journal of pediatric endocrinologymetabolism : JPEMReferences. 35(12) |
| ISSN: |
2191-0251 |
| Popis: |
The aim of this study is to determine the clinical and molecular characteristics enabling differential diagnosis in a group of Turkish children clinically diagnosed with MODY and identify the cut-off value of HbAThe study included 49 patients from 48 unrelated families who were admitted between 2018 and 2020 with a clinical diagnosis of MODY. Clinical and laboratory characteristics of the patients at the time of the diagnosis were obtained from hospital records. Variant analysis of ten MODY genes was performed using targeted next-generation sequencing (NGS) panel and the variants were classified according to American Collage of Medical Genetics and Genomics (ACMG) Standards and Guidelines recommendations.A total of 14 (28%) pathogenic/likely pathogenic variants were detected among 49 patients. 11 variants inFamily history, HbA |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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