Associated Papers
Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.
Ferretti A et al.
Pediatric Neurology, 2025
Exome sequencing in Nigerian children with early-onset epilepsy syndromes.
Ademuwagun IA et al.
Epilepsia Open, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE et al.
American Journal of Medical Genetics. Part A, 2021
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