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1-3 of 3
Keywords: PRKAR1A gene
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Journal Articles
Domenico Corica, Cecilia Lugarà, Jerome Bertherat, Eric Pasmant, Mariella Valenzise, Giorgia Pepe, Francesco Ferraù, Salvatore Cannavò, Tommaso Aversa, Malgorzata Gabriela Wasniewska
Journal:
Hormone Research in Paediatrics
Horm Res Paediatr 1–10.
Published Online: 05 August 2024
... of the PRKAR1A gene. The patient was begun on treatment with metyrapone which was well tolerated over a 2-year period. The clinical picture has slightly improved, cortisoluria returned and remains within normal limits, but ACTH suppression persists. Conclusion: This is the first report on the clinical...
Journal Articles
Journal:
Hormone Research in Paediatrics
Hormone Research (2005) 64 (3): 132–139.
Published Online: 26 October 2005
... PRKAR1A gene The Carney complex (CNC; MIM 160980) was first described in 1985 by J. Aidan Carney and coworkers [ 1 ] at the Mayo Clinic as the complex of myxomas, spotty pigmentation, and endocrine overactivity. The identification of this rare syndrome came from the study of 4 patients...
Journal Articles
Journal:
Hormone Research in Paediatrics
Hormone Research (2000) 54 (5-6): 334–343.
Published Online: 28 September 2001
... gene Protein kinase A PRKAR1A gene Cowden disease PTEN gene Pigmented spots in the skin and the mucosa that are called lentigines (from the Latin lentigo , ‘small lentil’) are the hallmark of the familial lentiginosis syndromes. These disorders [presented in table 1...