Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification

  title={Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification},
  author={D. Cohen and Nad{\`e}ge Pichard and S. Tordjman and C. Baumann and L. Burglen and E. Excoffier and G. Lazar and P. Mazet and C. Pinquier and A. Verloes and D. Heron},
  journal={Journal of Autism and Developmental Disorders},
  • D. Cohen, Nadège Pichard, +8 authors D. Heron
  • Published 2005
  • Medicine
  • Journal of Autism and Developmental Disorders
  • Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith–Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith–Lemli–Opitz syndrome) and proposes a consensual and economic diagnostic strategy… CONTINUE READING
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