Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome.

Viktoriia V Zabnenkova Olga A Shchagina Olga MakienkoGalina MatyushchenkoOxana P Ryzhkova

Published in: The application of clinical genetics (2022)

This case allows us to learn more about the clinical features and nature of MGS 5 and improve the speed of diagnostics and quality of genetic counseling for such families.

Keyphrases

copy number
case report
genome wide
early onset
dna methylation
cell cycle
smoking cessation
cell proliferation