Associated Papers
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
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.
Van Schil K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
28749477 (PubMed )
Supplement: gim201797x2.xlsx › Sheet1
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A et al.
European Journal of Human Genetics : Ejhg, 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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