title: Partial ATRX gene duplication causes ATR-X syndrome.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
authors.forename: Dianne M
authors.initials: DM
authors.lastname: Cohn
authors.forename: Roberta A
authors.initials: RA
authors.lastname: Pagon
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
mesh_terms: D000328:Adult; D002648:Child; D004265:DNA Helicases / Q000235:genetics*; D005190:Family; D020440:Gene Duplication; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein