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- Title
Neuroradiological criteria of human L1CAM syndrome -- report of 24 human L1CAM mutations including 17 noble mutations and clinical evaluation.
- Authors
Yamasaki, M.; Kanemura, Y.; Okamoto, N.; Sakamoto, H.; Kamiguchi, H.
- Abstract
The article studies the mutation and clinical features of the L1 gene in Japan. The authors defined the criteria for L1 CAM gene mutation analysis in two categories; the first was for patients with hydrocephalus with X-linked inheritance, and the second included the sporadic cases with clinical and neuro-radiological characteristics of XLH or MASA syndrome.
- Subjects
JAPAN; GENES; GENETIC mutation; HYDROCEPHALUS; GENETICS
- Publication
Cerebrospinal Fluid Research, 2004, Vol 1, p1
- ISSN
1743-8454
- Publication type
Article
- DOI
10.1186/1743-8454-1-S1-S35