Fabricio González-Andrade

DONSON-Associated MISSLA with Co-Occurring p.Arg442Ter and p.Lys489Thr Variants: Longitudinal Clinical and Genomic Characterization

Background: Microcephaly, short stature, and limb abnormalities syndrome (MISSLA) is an ultra-rare developmental disorder associated with biallelic DONSON variation and characterized by prenatal-onset growth restriction, congenital microcephaly, variable skeletal abnormalities, and neurodevelopmental impairment. We des...