Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M et al.
Clinical Genetics, 2024
Structural basis of mRNA binding by the human FERRY Rab5 effector complex.
Quentin D et al.
Molecular Cell, 2023
The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.
Vaneynde P et al.
Frontiers in Cell and Developmental Biology, 2022
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
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
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Anazi S et al.
Human Genetics, 2018
Expanding the genetic heterogeneity of intellectual disability.
Anazi S et al.
Human Genetics, 2017
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