Publication | Open Access

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

Mendelian DisorderPsychiatryGenetic DisorderGeneticsPsychiatric GeneticsX-linked Pqbp1 GeneFragile X SpectrumMolecular GeneticsDisease Gene IdentificationMedicineUncertain EffectExonic MicrodeletionsDevelopmental Delay