Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

Keyphrases

• ASXL3 100%
• Behavior Problems 8%
• Clinical Analysis 8%
• Clinical Evolution 8%
• Clinical Management 8%
• Clinical Spectrum 8%
• Developmental Delay 8%
• Distinctive Features 8%
• Feeding Difficulties 8%
• Functional Characterization 8%
• Hanging Columella 8%
• Hypertelorism 8%
• Hypotonia 8%
• International Research Collaboration 8%
• Missense Variants 8%
• Molecular Analysis 8%
• Nasal Bridge 8%
• Natural History 8%
• Neurobehavior 8%
• Neurodevelopmental Disorders 8%
• Non-penetrance 8%
• Palpebral Fissure 8%
• Pathogenic Variants 100%
• Phenotypic Spectrum 8%
• Sequence Variants 8%
• Truncating Variant 8%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Missense 100%