Associated Papers
MINPP1-Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation.
Ghafar SFA et al.
Clinical Genetics, 2025
Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Al-Maraghi A et al.
International Journal of Molecular Sciences, 2025
Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.
Cavusoglu D et al.
Cerebellum (london, England), 2024
38622473 (PubMed )
Supplement: 12311_2024_1690_MOESM1_ESM.xlsx › Sayfa1
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Ucuncu E et al.
Nature Communications, 2020
Select a paper to view details