Skip to Main Content

Paper Details

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
NPJ Genom Med
9
2021
H3, H3-3A, H3-3B, R129H, R41C, chaperone death domain-associated protein 6, chromatin, congenital disorder, developmental delay, dysmorphic facial features, dysmorphic features, failure to thrive, histone H3 variant, hypotonia, neurodevelopmental delay, p.I52N, p.M121I, p.R129H, p.R41C, short stature, somatic cancers, structural brain abnormalities, visual impairment, wild, wild-type control
Author NameAffiliation
Kandamurugu ManickamNationwide Children's Hospital (NCH) and The Ohio State University College of Medicine Section of Genetic and Genomic Medicine
Linyan MengBaylor College of Medicine
Linyan Meng
Pengfei LiuBaylor College of Medicine
Pengfei Liu
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
  • 1 - 13

Datasets

Release 1.2