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
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Appelhof B et al.
European Journal of Human Genetics : Ejhg, 2021
Select a paper to view details