Partial ATRX gene duplication causes ATR-X syndrome.
Cohn
Dianne M
DM
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.
Pagon
Roberta A
RA
Hudgins
Louanne
L
Schwartz
Charles E
CE
Stevenson
Roger E
RE
Friez
Michael J
MJ
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*
D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein