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Paper Details

De novo loss-of-function variants in <i>NSD2</i> (<i>WHSC1</i>) associate with a subset of Wolf-Hirschhorn syndrome.
Cold Spring Harb Mol Case Stud
19
2019
4p16, Chromosome 4, NSD2, NSD2 variants, WHS, WHSC1, Wolf-Hirschhorn syndrome, constipation, developmental delay, failure to thrive, haploinsufficiency of, hemizygosity of, hypotonia, intrauterine growth retardation, microdeletion syndrome, patients, short stature
Author NameAffiliation
Kandamurugu Manickam
Kandamurugu ManickamThe Ohio State University College of Medicine
Erik ZmudaThe Institute for Genomic Medicine at Nationwide Children's Hospital
Erik ZmudaThe Ohio State University College of Medicine
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Release 1.2