L.A. Soares

SETD5 gene variant associated with mild intellectual disability - a case report

• E. Stur
• L.A. Soares
• I.D. Louro

The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some.. Read More»

Genet. Mol. Res. 16(2): gmr16029615

DOI: 10.4238/gmr16029615