Pachygyria/hypogenitalism: a monogenic syndrome

Pradhan, M. ; Phadke, Shubha R. ; Jain, S. ; Agarwal, S. S. (1999) Pachygyria/hypogenitalism: a monogenic syndrome American Journal of Medical Genetics, 87 (3). pp. 254-257. ISSN 0148-7299

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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.

Item Type:Article
Source:Copyright of this article belongs to John Wiley and Sons.
Keywords:Pachygyria; Cryptorchidism; X-linked Mental Retardation
ID Code:64166
Deposited On:05 Oct 2011 10:56
Last Modified:05 Oct 2011 10:56

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