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
OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY.
Cai CX et al.
Retinal Cases & Brief Reports, 2022
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
da Silva EM et al.
Npj Breast Cancer, 2021
33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.pdf
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
Select a paper to view details