Associated Papers
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
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
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