𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM

✍ Scribed by Nobuhiko Okamoto; Rolando Del Maestro; Rebeca Valero; Eugenia Monros; Pilar Poo; Yonehiro Kanemura; Mami Yamasaki


Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
131 KB
Volume
49
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Genetic and clinical aspects of X-linked
✍ Sabine Weller; Jutta Gärtner 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB

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

Spectrum and detection rate ofL1CAM muta
✍ 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