THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME

THE EFFECTIVENESS OF PTPN11 GENE ANALYSIS IN THE PRENATAL DIAGNOSIS OF NOONAN SYNDROME

Objective: Dominant pathogenic variants in 29 RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) pathway genes, important for the regulation of cell growth, differentiation, aging and cell-cycle, are responsible for RASopathies, Noonan syndrome (NS) is the most common form. PTPN11 variants are...

Full description

Saved in:
Bibliographic Details
Main Authors: Güven Toksoy, Fatih Tepgeç, Tuğba Saraç Sivrikoz, İbrahim Halil Kalelioğlu, Selma Demir, Recep Has, Atıl Yüksel, Zehra Oya Uyguner, Seher Başaran
Format: Article
Language:English
Published: Istanbul University Press 2021-01-01
Series:İstanbul Tıp Fakültesi Dergisi
Subjects:
ptpn11
noonan syndrome
increased nuchal translucency
cystic hygroma
pleural effusion
Online Access:https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/E893A966FC784DC2A45B3A4D6C2506F8
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items