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
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Al-Kasbi G et al.
Scientific Reports, 2022
36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1
Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1.
Appelhof B et al.
European Journal of Human Genetics : Ejhg, 2021
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