Associated Papers
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M et al.
Clinical Genetics, 2024
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
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