Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
Palka
C
C
Giuliani
R
R
Brancati
F
F
Mohn
A
A
Di Muzio
A
A
Calabrese
O
O
Huebner
A
A
De Grandis
D
D
Chiarelli
F
F
Ferlini
A
A
Stuppia
L
L
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D004931:Esophageal Achalasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins