Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
Frints
Suzanna G M
SG
Froyen
Guy
G
Marynen
Peter
P
Willekens
Diane
D
Legius
Eric
E
Fryns
Jean-Pierre
JP
D000368:Aged; D041321:Chromosomes, Human, X / Q000235:genetics*; D004421:Dystonia / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009422:Nervous System Diseases / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*; D014202:Tremor / Q000235:genetics / Q000473:pathology
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors