Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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MEN1 mutations can inactivate or disrupt menin function and are leading to multiple endocrine neoplasia type 1, a rare heritable tumor syndrome.
We report on a MEN1 family with a novel heterozygous germline mutation, c.674delG; p.Gly225Aspfs*56 in exon 4 of the MEN1 gene. Diagnosis and clinical phenotyping of MEN1 was established by laboratory t...
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Distinct clinical phenotypes in a family with a novel truncating MEN1 frameshift mutation
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TN_cdi_doaj_primary_oai_doaj_org_article_c9e0cebbdff3403aa9dbefd8687f8b95
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c9e0cebbdff3403aa9dbefd8687f8b95
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ISSN
1472-6823
E-ISSN
1472-6823
DOI
10.1186/s12902-022-00978-9
