Associated Papers
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
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 Deficiency: Expanding the Clinical and Genetic Spectrum.
Alhaddad B et al.
Neuropediatrics, 2018
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