Associated Papers
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M et al.
Clinical Genetics, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.
Loddo S et al.
American Journal of Medical Genetics. Part A, 2020
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.
Rehman AU et al.
Human Mutation, 2019
PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.
Suleiman J et al.
Clinical Genetics, 2018
Select a paper to view details