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Article

Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

American journal of human genetics - 7 Mar 2013

Radmanesh Farid, Caglayan Ahmet Okay, Silhavy Jennifer L, Yilmaz Cahide, Cantagrel Vincent, Omar Tarek, Rosti Başak, Kaymakcalan Hande, Gabriel Stacey, Li Mingfeng, Sestan Nenad, Bilguvar Kaya, Dobyns William B, Zaki Maha S, Gunel Murat, Gleeson Joseph G

Abstract excerpt

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, encoding laminin...

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Identifiers

PMID: 23472759
DOI: 10.1016/j.ajhg.2013.02.005
PMCID: PMC3591846

Genes

LAMB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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