Associated Papers
A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.
Moon WY et al.
Medicina (kaunas, Lithuania), 2025
Variability of retinopathy consequent upon novel mutations in LAMA1.
Schiff ER et al.
Ophthalmic Genetics, 2022
An Early Diagnostic Clue for COL18A1- and LAMA1-Associated Diseases: High Myopia With Alopecia Areata in the Cranial Midline.
Wang P et al.
Frontiers in Cell and Developmental Biology, 2021
34249907 (PubMed )
Supplement: Table_3.XLSX › Sheet1
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell L et al.
Brain Communications, 2021
34423300 (PubMed )
Supplement: fcab163_Supplementary_Data.zip › Manuscript_original_submission.pdf
Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review.
Elmas M et al.
Clinical Medicine Insights. Case Reports, 2020
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A et al.
European Journal of Human Genetics : Ejhg, 2016
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
Vilboux T et al.
Journal of Medical Genetics, 2016
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Aldinger KA et al.
American Journal of Human Genetics, 2014
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