Associated Papers
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Abdel-Salam GMH et al.
Clinical Genetics, 2023
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
34362006 (PubMed )
Supplement: jcm-10-03222-s001.zip › jcm-1250779-conversion › Table_S3.pdf
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G et al.
Neuron, 2021
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