L1 disease is a group of overlapping clinical phenotypes including X-linked hydrocephalus, MASA syndrome, spastic paraparesis type 1, and X-linked agenesis of corpus callosum. The patients are characterized by hydrocephalus, agenesis or hypoplasia of corpus callosum and corticospinal tracts, mental
✦ LIBER ✦
X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene
✍ Scribed by Jouet, Monique; Rosenthal, André; Armstrong, Giles; MacFarlane, John; Stevenson, Roger; Paterson, Joan; Metzenberg, Aïda; Ionasescu, Victor; Temple, Karen; Kenwrick, Susan
- Book ID
- 109916455
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 658 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1061-4036
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