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
Investigation of FRMPD4 variants associated with X-linked epilepsy.
Li RK et al.
Seizure, 2024
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
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H et al.
Molecular Psychiatry, 2016
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