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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Official URL: http://onlinelibrary.wiley.com/doi/10.1002/(SICI)1...
Related URL: http://dx.doi.org/10.1002/(SICI)1096-8628(19991126)87:3<254::AID-AJMG11>3.0.CO;2-4
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.
| 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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