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Novel mutations in three patients with LGMD2C with phenotypic differences

✍ Scribed by Sascha Vermeer; Aad Verrips; Michèl A.A.P. Willemsen; Henk J. ter Laak; Ieke B. Ginjaar; Ben C.J. Hamel


Book ID
116824541
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
160 KB
Volume
30
Category
Article
ISSN
0887-8994

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Oculocerebrorenal syndrome of Lowe: Thre
✍ Kawano, Tomoyasu; Indo, Yasuhiro; Nakazato, Hitoshi; Shimadzu, Mitsunobu; Matsud 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 3 views

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified