A Novel Missense Mutation in Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2014-09-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Online Access: | https://doi.org/10.1177/2326409814550528 |