Phenotypic and mutational spectrum of thirty-five patients with Sjögren–Larsson syndrome: identification of eleven novel ALDH3A2 mutations and founder effects

Mutational analysis of the ALDH3A2 gene identified 11 novel variants in 35 patients with Sjögren–Larsson syndrome. Clinical & brain imaging findings revealed variable inter-& intra-familial severity and expressivity. @nresearchnews https://t.co/z47