Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
نویسندگان
چکیده
منابع مشابه
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1,...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2013
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.02.005