Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1.

@article{Hai2000ClinicalFO,
  title={Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1.},
  author={N. T. Bik Hai and Naohito Aoki and Akira Shimatsu and Tadashi Mori and Shinji Kosugi},
  journal={Clinical endocrinology},
  year={2000},
  volume={52 4},
  pages={
          509-18
        }
}
OBJECTIVE Multiple endocrine neoplasia type 1 (MEN1) is a familial tumour syndrome of endocrine tumours involving parathyroids, anterior pituitary and enteropancreatic neuroendocrine tissues, and is inherited in an autosomal dominant manner with high penetrance. Recently, the gene responsible for this syndrome, MEN1, was positionally cloned from chromosome 11q13. PATIENTS To characterize sporadic MEN1 patients, we analysed the MEN1 gene by direct sequencing of the entire open reading frame… CONTINUE READING
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