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Lessons from genes mutated in multiple endocrine neoplasia (MEN) syndromes

โœ Scribed by Falchetti, A.; Marini, Fr.; Tonelli, Fr.; Brandi, M.L.


Book ID
123020346
Publisher
Masson Editeur
Year
2005
Tongue
French
Weight
138 KB
Volume
66
Category
Article
ISSN
0003-4266

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Diagnostic challenges due to phenocopies
โœ Jeremy J. O. Turner; Paul T. Christie; Simon H. S. Pearce; Peter D. Turnpenny; R ๐Ÿ“‚ Article ๐Ÿ“… 2010 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 278 KB

Phenocopies may confound the clinical diagnoses of hereditary disorders. We report phenocopies in Multiple Endocrine Neoplasia type 1 (MEN1), an autosomal dominant disorder, characterised by the combined occurrence of parathyroid, pituitary and pancreatic tumours. We studied 261 affected individuals