Publication | Open Access

Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsFragile X SpectrumClinical FeaturesComplex Developmental DisorderDisease Gene IdentificationMolecular MedicineAbnormal DevelopmentMedicineFrameshift MutationsNeurogeneticsDevelopmental Delay