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Paper Details

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
55
2016
ASXL genes, ASXL1, ASXL1- and ASXL3-related disorders, ASXL2, ASXL3, Bohring-Opitz and Bainbridge-Ropers syndromes, Mendelian disorder, alleles, arched eyebrows, blood, developmental delay, developmental disabilities, dysmorphic features, genomic loci, germline disorders, glabellar nevus flammeus, growth retardation, human, hypertelorism, hypotonia, intellectual disabilities, intellectual disability, mRNA, macrocephaly, mutated ASXL2 transcripts, neurodevelopmental syndrome, prominent eyes
Author NameAffiliation
Vandana Shashi
Loren D M Pena
Kelly Schoch
Megan T Cho
Outi KuisminPEDEGO Research Unit, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu University Hospital, Finland Institute for Molecular Medicine Finland, University of Helsinki
Olli PietiläinenStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, USA Harvard Stem Cell Institute, Harvard University
Aarno PalotieInstitute for Molecular Medicine Finland, University of Helsinki, Finland Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Massachusetts General Hospital
Mitja I KurkiBroad Institute of MIT and Harvard, Massachusetts General Hospital
Anna C NeedImperial College London
David B GoldsteinInstitute for Genomic Medicine, Columbia University
David B GoldsteinInstitute for Genomic Medicine, Columbia University
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