The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Antwerp (Belgium)
Mutations in the gene encoding the neuronal cell adhesion molecule L1 are responsible for several syndromes with clinical overlap, including X-linked hydrocephalus (XLH, HSAS), MASA (mental retardation, aphasia, shuffling gait, adducted thumbs) syndrome, complicated X-linked spastic paraplegia (SP 1), X-linked mental retardation-clasped thumb (MR-CT) syndrome, and some forms of X-linked agenesis of the corpus callosum (ACC). We review 34 L1 mutations in patients with these phenotypes. 22 refs., 3 figs., 4 tabs.
- OSTI ID:
- 476911
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 64; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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