Month: <span>June 2024</span>
Month: June 2024

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance

Mol Biol Rep. 2024 Jun 1;51(1):714. doi: 10.1007/s11033-024-09560-z. ABSTRACT BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts …

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Eur J Hum Genet. 2024 Jun 1. doi: 10.1038/s41431-024-01643-6. Online ahead of print. ABSTRACT Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality …