Article
Heterozygous FA2H mutations in autism spectrum disorders.
BMC medical genetics - 3 Dec 2013
Scheid Isabelle, Maruani Anna, Huguet Guillaume, Leblond Claire S, Nygren Gudrun, Anckarsäter Henrik, Beggiato Anita, Rastam Maria, Amsellem Fréderique, Gillberg I Carina, Elmaleh Monique, Leboyer Marion, Gillberg Christopher, Betancur Catalina, Coleman Mary, Hama Hiroko, Cook Edwin H, Bourgeron Thomas, Delorme Richard
Abstract excerpt
BACKGROUND: Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional...
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