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Disturbances in the expression Of neuronal cell adhesion proteins NCAM. Clinical aspects

✍ Scribed by V. P. Chekhonin; I. I. Shepeleva; O. I. Gurina


Book ID
111470569
Publisher
SP MAIK Nauka/Interperiodica
Year
2008
Tongue
English
Weight
363 KB
Volume
2
Category
Article
ISSN
1819-7124

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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 l