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Paper Details

A de novo nonsense mutation in <i>ASXL3</i> shared by siblings with Bainbridge-Ropers syndrome.
Cold Spring Harb Mol Case Stud
25
2018
ASXL3, BRPS, Bainbridge-Ropers syndrome, Bohring-Opitz syndrome, R1036X, absent speech, autistic traits, children, developmental disorder, fragile X, human, hypotonia, intellectual disability, p., patients, seizures
Author NameAffiliation
Daniel C KoboldtInstitute for Genomic Medicine at Nationwide Children's Hospital
Daniel C KoboldtThe Ohio State University
Benjamin J KellyInstitute for Genomic Medicine at Nationwide Children's Hospital
Benjamin J KellyInstitute for Genomic Medicine at Nationwide Children's Hospital
Richard K WilsonInstitute for Genomic Medicine at Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
Richard K WilsonInstitute for Genomic Medicine at Nationwide Children's Hospital
Richard K WilsonThe Ohio State University
Peter WhiteInstitute for Genomic Medicine at Nationwide Children's Hospital
Peter WhiteThe Ohio State University
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