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Pachygyria/hypogenitalism: A monogenic syndrome

โœ Scribed by Pradhan, M.; Phadke, Shubha R.; Jain, S.; Agarwal, S. S.

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
22 KB
Volume
87
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991126)87:3<254::aid-ajmg11>3.0.co;2-4

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โœฆ Synopsis

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.

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