Detection of a rare mutation in a Noonan syndrome suspected patient
Noonan syndrome (NS) is a genetic autosomal dominant condition, caused by mutations in PTPN11 and other genes. The aim of this report is to highlight a finding of a rare mutation in the RAF1 gene in a six-year-old child evaluated for Noonan Syndrome. An Ampliseq Research Panel covering A2ML1, BRAF,...
| Permalink: | http://skupnikatalog.nsk.hr/Record/nsk.NSK01001122404/Description |
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| Matična publikacija: |
Molecular and experimental biology in medicine 3 (2020), 1 ; str. 44-47 |
| Glavni autori: | Dobrevski, Boban (Author), Shukarova Angelovska, Elena, Kirijas, Meri, Milanovski, Gorjan, Brnjarchevska Blazhevska, Teodora, Boceska, Frosina, Petlichkovski, Aleksandar |
| Vrsta građe: | e-članak |
| Jezik: | eng |
| Predmet: | |
| Online pristup: |
https://doi.org/10.33602/mebm.3.1.7 Molecular and experimental biology in medicine Hrčak |