Associated Papers
A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.
Moon WY et al.
Medicina (kaunas, Lithuania), 2025
Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice.
Ballesta-Martínez MJ et al.
Orphanet Journal of Rare Diseases, 2023
37480025 (PubMed )
Supplement: 13023_2023_2809_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
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).
Micalizzi A et al.
European Journal of Human Genetics : Ejhg, 2016
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