A Novel AAAS Gene Mutation (p.R194X) in a Patient with Triple A Syndrome

Objective: The clinical and molecular data of a patient with triple A syndrome are reported. Patient: A 21-year-old male who was diagnosed for adrenal insufficiency at the age of 2 years after a severe attack of adrenal crisis. At the age of 4 years, achalasia and alacrima were diagnosed. Puberty st...

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Veröffentlicht in:	Hormone research 2006-01, Vol.65 (4), p.171-176
Hauptverfasser:	Dusek, Tina, Korsic, Marta, Koehler, Katrin, Perkovic, Zdravko, Huebner, Angela, Korsic, Mirko
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Insufficiency - diagnosis Adrenal Insufficiency - genetics Adrenal Insufficiency - physiopathology Adult Chromosomes, Human, Pair 12 DNA - analysis DNA - genetics Esophageal Achalasia - diagnosis Esophageal Achalasia - genetics Esophageal Achalasia - physiopathology Exons - genetics Humans Lacrimal Apparatus Diseases - diagnosis Lacrimal Apparatus Diseases - genetics Lacrimal Apparatus Diseases - physiopathology Male Mutation - genetics Nerve Tissue Proteins Novel Insights from Clinical Practice Nuclear Pore Complex Proteins - genetics Nuclear Pore Complex Proteins - physiology Osteoporosis - diagnosis Osteoporosis - physiopathology Pituitary Gland - physiopathology Puberty, Delayed - diagnosis Puberty, Delayed - physiopathology Syndrome
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