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Pachygyria/hypogenitalism: A monogenic syndrome
M Pradhan1, S R Phadke, S Jain
1Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.
American Journal of Medical Genetics
|November 24, 1999
Abstract:
We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.