X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in females. It is characterized by ventricular dilatation, mental retardation, deformity of the thumb and spastic paraparesis. Recently, 23 different mutations of the gene for the neural cell adhesion molecule, L1CAM, l
โฆ LIBER โฆ
A novel missense mutation in theL1CAMgene in a boy with L1 disease
โ Scribed by A. Simonati; F. Boaretto; A. Vettori; P. Dabrilli; L. Criscuolo; N. Rizzuto; M. L. Mostacciuolo
- Book ID
- 106268190
- Publisher
- Springer Milan
- Year
- 2006
- Tongue
- English
- Weight
- 81 KB
- Volume
- 27
- Category
- Article
- ISSN
- 1590-1874
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## 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