Associated Papers
A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.
Abdel-Salam GMH et al.
Clinical Genetics, 2023
Report of new variants in PPIL1 underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses.
Zhang Y et al.
American Journal of Medical Genetics. Part A, 2023
The emerging significance of splicing in vertebrate development.
Olthof AM et al.
Development (cambridge, England), 2022
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G et al.
Neuron, 2021
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