Open access
Aug 2026
Variable Expressiveness of a Novel Pathogenic SETD1A Missense Variant Linked to FLOS Domain Haploinsufficiency in a Mexican Pedigree
These findings present observational evidence of intrafamilial clinical variability in a single pedigree with a SETD1A missense alteration, supporting the hypothesis that non-catalytic domain substitutions may contribute to diverse neurodevelopmental outcomes.
L. M. G. Huerta, Miguel Ángel Fonseca Sánchez, Marcela Esquivel Velázquez et al.
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