H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome

Keyphrases

• Missense Variants 100%
• Angelman Syndrome 100%
• Neurodevelopmental Phenotypes 100%
• Neurodevelopmental Syndrome 100%
• Genome Sequencing 50%
• Gene Variants 50%
• Microcephaly 50%
• Developmental Delay 50%
• Histone Genes 50%
• H4 Histones 50%
• Proband 25%
• Exome Sequencing 25%
• Intellectual Disability 25%
• Molecular Diagnostics 25%
• Autism 25%
• Young Males 25%
• Cause of Disease 25%
• 4-year-olds 25%
• Missense 25%
• Short Stature 25%
• Initial Description 25%
• Facial Dysmorphism 25%
• Undiagnosed Diseases Network 25%
• Molecular Confirmation 25%
• Happy Demeanor 25%
• Angelman 25%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Angelman Syndrome 100%
• Histone H4 50%
• Genome Sequencing 50%
• Histone Gene 50%
• Proband 25%
• Intellectual Disability 25%
• Exome Sequencing 25%
• Body Height 25%