A new autosomal recessive syndrome of pachygyria
| Autor: | N. Gadoth, Jacob Amir, S. Gross, Rachel Straussberg |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
genetic structures Neuronal migration Lissencephaly Genes Recessive Biology Central nervous system disease Consanguinity Cell Movement Intellectual Disability Genetics medicine Humans Abnormalities Multiple Child Strabismus Genetics (clinical) Cerebral Cortex Neurons Esotropia Reflex Abnormal Pachygyria Infant medicine.disease Magnetic Resonance Imaging eye diseases Child Preschool Female sense organs |
| Zdroj: | Clinical Genetics. 50:498-501 |
| ISSN: | 1399-0004 0009-9163 |
| Popis: | Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria. |
| Databáze: | OpenAIRE |
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