Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum.

Abstract excerpt

Several clinical entities are associated with ACTB pathogenic variants. Most notably, constitutional missense gain-of-function variants are linked to Baraitser-Winter cerebrofrontofacial syndrome, and recurrent somatic gain-of-function Arg147 variants are reported in Becker's nevus or in smooth muscle hamartomas. We describe three individuals with mosaic hypopigmentation following Blaschko's lines, associated or...

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