A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)
β Scribed by Abidemi Adegbola; Hanlin Gao; Steve Sommer; Marsha Browning
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 356 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## To the Editor: Canavan disease (CD) is an autosomal recessive neurodegenerative disorder affecting white matter and leading to spongy degeneration. Macroencephaly is characteristic in children with this severe leukodystrophy. The disease is caused by the deficiency of aspartoacylase (ASPA) and i
## Abstract Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal
## Abstract Craniometaphyseal dysplasia is caused by mutations in __ANKH__ (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified an