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L1CAM mutation shows regions of thick, large gyri

Low power photomicrograph of the occipital lobe from a patient with a L1CAM mutation shows regions of relatively thick, large gyri (a). Medium power photomicrograph representative of Figure a shows normal appearing laminar cortical neuronal architecture (b). (Contributed by Dr. William Graf.)

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Associated Disorders

  • CRASH syndrome
  • Complex spastic paraplegia
  • MASA syndrome