Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

doi:10.1136/jmedgenet-2015-103416

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Article

Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.

Journal of medical genetics - 1 May 2016

Vilboux Thierry, Malicdan May Christine V, Chang Yun Min, Guo Jennifer, Zerfas Patricia M, Stephen Joshi, Cullinane Andrew R, Bryant Joy, Fischer Roxanne, Brooks Brian P, Zein Wadih M, Wiggs Edythe A, Zalewski Christopher K, Poretti Andrea, Bryan Melanie M, Vemulapalli Meghana, Mullikin James C, Kirby Martha, Anderson Stacie M, Huizing Marjan, Toro Camilo, Gahl William A, Gunay-Aygun Meral

Abstract excerpt

BACKGROUND: Laminins are heterotrimeric complexes, consisting of α, β and γ subunits that form a major component of basement membranes and extracellular matrix. Laminin complexes have different, but often overlapping, distributions and functions. METHODS: Under our clinical protocol, NCT00068224, we have performed extensive clinical and neuropsychiatric phenotyping, neuroimaging and molecular analysis in patients...

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Identifiers

PMID: 27095636
DOI: 10.1136/jmedgenet-2015-103416
PMCID: PMC8378307

Genes

LAMA1

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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