title: Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome.
authors.forename: C
authors.initials: C
authors.lastname: Palka
authors.forename: R
authors.initials: R
authors.lastname: Giuliani
authors.forename: F
authors.initials: F
authors.lastname: Brancati
authors.forename: A
authors.initials: A
authors.lastname: Mohn
authors.forename: A
authors.initials: A
authors.lastname: Di Muzio
authors.forename: O
authors.initials: O
authors.lastname: Calabrese
authors.forename: A
authors.initials: A
authors.lastname: Huebner
authors.forename: D
authors.initials: D
authors.lastname: De Grandis
authors.forename: F
authors.initials: F
authors.lastname: Chiarelli
authors.forename: A
authors.initials: A
authors.lastname: Ferlini
authors.forename: L
authors.initials: L
authors.lastname: Stuppia
mesh_terms: 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*
chemical_list: C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins