Associated Papers
Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.
Scorrano G et al.
Frontiers in Neurology, 2023
PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.
Magyar CL et al.
American Journal of Medical Genetics. Part A, 2022
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.
Gholizadeh MA et al.
Bmc Medical Genomics, 2022
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.
Nistala H et al.
Human Molecular Genetics, 2021
Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.
Bibbò F et al.
Frontiers in Oncology, 2021
Altered MR imaging findings in a Japanese female child with PRUNE1-related disorder.
Fujii H et al.
Brain & Development, 2020
A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.
Hartley JN et al.
American Journal of Medical Genetics. Part A, 2019
PRUNE1-related disorder: Expanding the clinical spectrum.
Imagawa E et al.
Clinical Genetics, 2018
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