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24. Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome. Kallabi F; Ben Rhouma B; Baklouti S; Ghorbel R; Felhi R; Keskes L; Kamoun H Horm Res Paediatr; 2016; 86(2):90-93. PubMed ID: 27414811 [TBL] [Abstract][Full Text] [Related]
25. Triple A syndrome: two siblings with a novel mutation in the AAAS gene. Bouliari A; Lu X; Persky RW; Stratakis CA Hormones (Athens); 2019 Mar; 18(1):109-112. PubMed ID: 30612286 [TBL] [Abstract][Full Text] [Related]
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27. Homozygous deletion of the entire AAAS gene in a triple A syndrome patient. Koehler K; Hackmann K; Landgraf D; Schubert T; Shakiba M; Kariminejad A; Huebner A Eur J Med Genet; 2019 Jul; 62(7):103665. PubMed ID: 31071487 [TBL] [Abstract][Full Text] [Related]
28. Analysis of the AAAS gene in a Japanese patient with triple A syndrome. Katsumata N; Hirose H; Kagami M; Tanaka T Endocr J; 2002 Feb; 49(1):49-53. PubMed ID: 12008750 [TBL] [Abstract][Full Text] [Related]
29. Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. Singh K; Puri RD; Bhai P; Arya AD; Chawla G; Saxena R; Verma IC J Pediatr Endocrinol Metab; 2018 Jul; 31(7):799-807. PubMed ID: 29874194 [TBL] [Abstract][Full Text] [Related]
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32. Triple-A syndrome: a wide spectrum of adrenal dysfunction. Roucher-Boulez F; Brac de la Perriere A; Jacquez A; Chau D; Guignat L; Vial C; Morel Y; Nicolino M; Raverot G; Pugeat M Eur J Endocrinol; 2018 Mar; 178(3):199-207. PubMed ID: 29237697 [TBL] [Abstract][Full Text] [Related]
33. Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome. Reimann J; Kohlschmidt N; Tolksdorf K; Weis J; Kuchelmeister K; Roos A J Neuropathol Exp Neurol; 2017 May; 76(5):337-341. PubMed ID: 28371804 [TBL] [Abstract][Full Text] [Related]
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40. Triple-A Syndrome (TAS): An In-Depth Overview on Genetic and Phenotype Heterogeneity. Pogliaghi G; Cangiano B; Duminuco P; Vezzoli V; Bonomi M Protein Pept Lett; 2020; 27(12):1192-1203. PubMed ID: 32533814 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]