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
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G et al.
Neuron, 2021
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