Associated Papers
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
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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