Article
A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins.
Hormones (Athens, Greece) - 1 Sept 2018
Palermo Andrea, Capoluongo Ettore, Del Toro Rossella, Manfrini Silvia, Pozzilli Paolo, Maggi Daria, Defeudis Giuseppe, Pantano Francesco, Coppola Roberto, Di Matteo Francesco Maria, Raffaelli Marco, Concolino Paola, Falchetti Alberto
Abstract excerpt
CONTEXT: Clinical phenotype variability in MEN1 syndrome exists and evidence for an established genotype-phenotype is lacking. However, a higher aggressiveness of MEN1-associated gastro-entero-pancreatic (GEP) (neuro)endocrine tumours (NETs) tumours has been reported when MEN1 gene truncating mutations are detected. We found a novel germline truncating mutation of MEN1 gene at exon 10 in a subject with an...
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