ARX mutation in a boy with transsphenoidal encephalocele and hypopituitarism.
Van Esch
H
H
Poirier
K
K
de Zegher
F
F
Holvoet
M
M
Bienvenu
T
T
Chelly
J
J
Devriendt
K
K
Fryns
J-P
JP
D002648:Child; D004677:Encephalocele / Q000175:diagnosis* / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors