Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
40963120 (PubMed )
Supplement: 13073_2025_1516_MOESM1_ESM.xlsx › S1_Cohort
A Review of the Ocular Phenotype and Correlation with Genotype in Poretti-Boltshauser Syndrome.
Moon WY et al.
Medicina (kaunas, Lithuania), 2025
40428839 (PubMed )
Supplement: medicina-61-00881-s001.zip › medicina-3611700-supplementary.pdf
Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.
Raftopoulos KMM et al.
Global Medical Genetics, 2025
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
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