Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1).

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...

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Detalhes bibliográficos
Principais autores: Turner, J, Christie, P, Pearce, S, Turnpenny, P, Thakker, R
Formato: Journal article
Idioma:English
Publicado em: 2010