Associated Papers
Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia.
Del Viso F et al.
American Journal of Medical Genetics. Part A, 2023
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng WL et al.
Bmc Medical Genomics, 2016
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