True MEN1 or phenocopy? Evidence for geno-phenotypic correlations in MEN1 syndrome

PURPOSE: Multiple endocrine neoplasia type 1 is a rare tumor syndrome caused by germline mutations of MEN1 gene. Phenotype varies widely, and no definitive correlation with the genotype has been observed. Mutation-negative patients with MEN1-associated tumors represent phenocopies. By comparing muta...

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Publicat a:Endocrine
Autors principals: Kövesdi, Annamária, Tóth, Miklós, Butz, Henriett, Szücs, Nikolette, Sármán, Beatrix, Pusztai, Péter, Tőke, Judit, Reismann, Péter, Fáklya, Mónika, Tóth, Géza, Somogyi, Anikó, Borka, Katalin, Erdei, Annamária, Nagy, Endre V., Deák, Veronika, Valkusz, Zsuzsanna, Igaz, Péter, Patócs, Attila, Grolmusz, Vince Kornél
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2019
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6656790/
https://ncbi.nlm.nih.gov/pubmed/31044390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12020-019-01932-x
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