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Pachygyria/hypogenitalism: A monogenic syndrome

descriptionPublicationkeyboard_double_arrow_right Article 26 Nov 1999 English Publisher:WileyJournal:American Journal of Medical Genetics, volume 87, pages 254-257 (issn: 0148-7299, eissn: 1096-8628,

Authors: Shyam S. Agarwal; Mandakini Pradhan; Shubha R. Phadke; Suruchi Jain;

doi: 10.1002/(sici)1096-8628(19991126)87:3<254::aid-ajmg11>3.0.co;2-4 , 10.1002/(sici)1096-8628(19991126)87:3<254::aid-ajmg11>3.3.co;2-w

pmid: 10564880

Pachygyria/hypogenitalism: A monogenic syndrome

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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.

Related Organizations

Sanjay Gandhi Post Graduate Institute of Medical Sciences
India

Keywords

Cerebral Cortex, Male, Magnetic Resonance Imaging, Cell Movement, Child, Preschool, Intellectual Disability, Testis, Humans, Child, Growth Disorders, Penis

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