Thierry Vilboux May Christine V Malicdan Yun Min Chang Jennifer Guo Patricia M Zerfas Joshi Stephen Andrew R Cullinane Joy Bryant Roxanne Fischer Brian P Brooks Wadih M Zein Edythe A Wiggs Christopher K Zalewski Andrea Poretti Melanie M Bryan Meghana Vemulapalli James C Mullikin Martha Kirby Stacie M Anderson NISC Comparative Sequencing Program Marjan Huizing Camilo Toro William A Gahl Meral Gunay-Aygun
10.1136/jmedgenet-2015-103416
J Med Genet
2016 May;53(5):318-29.
clinical genetics genetics movement disorders (other than parkinsons) myopia neurosciences
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27095636/
Cerebellar Diseases / metabolism Laminin / genetics Mutation Myopia / metabolism Obsessive-Compulsive Disorder / metabolism
Cerebellar Diseases / metabolism Laminin / genetics Mutation Myopia / metabolism Obsessive-Compulsive Disorder / metabolism Case Reports Research Support, N.I.H., Intramural Adult Cell Adhesion Cell Movement Cerebellar Diseases / genetics Cerebellar Diseases / physiopathology Child Female Fibroblasts / metabolism Fibroblasts / physiology Humans Male Myopia / genetics Myopia / physiopathology Neurons / metabolism Neurons / physiology Obsessive-Compulsive Disorder / genetics Obsessive-Compulsive Disorder / physiopathology Pedigree Retinal Dystrophies / genetics Retinal Dystrophies / metabolism Retinal Dystrophies / physiopathology Syndrome Tic Disorders / genetics Tic Disorders / metabolism Tic Disorders / physiopathology Young Adult cdc42 GTP-Binding Protein Laminin laminin A cdc42 GTP-Binding Protein
PMC8378307
27095636
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
2016