Erratum: Finckh U, Schr�der J, Ressler B, Veske A, Gal A. Spectrum and detection rate ofL1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet 92:40-46.

Spectrum and detection rate ofL1CAM muta

Spectrum and detection rate ofL1CAM mutations in isolated and familial cases with clinically suspected L1-disease

✍ Finckh, Ulrich; Schr�der, Jutta; Ressler, Bernadette; Veske, Andres; Gal, Andrea 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB

Mutations in L1CAM, the gene encoding the L1 neuronal cell adhesion molecule, lead to an X-linked trait characterized by one or more of the symptoms of hydrocephalus, adducted thumbs, agenesis or hypoplasia of corpus callosum, spastic paraplegia, and mental retardation (L1-disease). We screened 153