Associated Papers
A Novel Intronic Variant in FRMPD4 Disrupts Splicing: Case Report of an X-Linked Neurodevelopmental Disorder.
Satake T et al.
American Journal of Medical Genetics. Part A, 2025
Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein.
Pan H et al.
Journal of Genetics, 2024
Structure of the FERM domain of a neural scaffold protein FRMPD4 implicated in X-linked intellectual disability.
Wang M et al.
The Biochemical Journal, 2020
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Piard J et al.
Human Molecular Genetics, 2018
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
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