A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.

Celestino-Soper PB, Violante S, Crawford EL, Luo R, Lionel AC, Delaby E, Cai G, Sadikovic B, Lee K, Lo C, Gao K, Person RE, Moss TJ, German JR, Huang N, Shinawi M, Treadwell-Deering D, Szatmari P, Roberts W, Fernandez B, Schroer RJ, Stevenson RE, Buxbaum JD, Betancur C, Scherer SW, Sanders SJ, Geschwind DH, Sutcliffe JS, Hurles ME, Wanders RJ, Shaw CA, Leal SM, Cook EH, Goin-Kochel RP, Vaz FM, Beaudet AL
Proc Natl Acad Sci U S A. 2012 109 (21): 7974-81

PMID: 22566635 · PMCID: PMC3361440 · DOI:10.1073/pnas.1120210109

MeSH Terms (14)

Autistic Disorder Carnitine Chromosomes, Human, X Cognition Exons Gene Deletion Genes, X-Linked Humans Male Metabolism, Inborn Errors Mixed Function Oxygenases Penetrance Risk Factors Siblings

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