Associated Papers
Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.
Waterham HR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM13_ESM.xlsx › Sheet1
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J et al.
Clinical Genetics, 2019
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