Article

Familial bilateral macronodular adrenal hyperplasia due to a new ARMC 5 germline mutation. Clinical status and possible association with other neoplasms.

2023-02-15

Abstract excerpt

<title>Abstract</title> <p>Mutations in the ARMC5 gene (armadillo repeat containing 5, OMIM 615549), a putative tumor suppression gene, have recently been identified as a common cause of sporadic and familial bilateral macronodular adrenal hyperplasia (HAMB). HAMB in familial cases is believed to be determined by two mutations, one germinal and the other somatic, as pointed out by the theory of the 2 hits. We pre...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f0bf05ca-b53b-5a09-be84-77610a9a7c0f
DOI: 10.21203/rs.3.rs-2507166/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Familial bilateral macronodular adrenal hyperplasia due to a new ARMC 5 germline mutation. Clinical status and possible association with other neoplasms.DOI 10.21203/rs.3.rs-2507166/v1Read

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report.Semantic proximity Read

Novel ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family reportSemantic proximity Read

Genetic alteration of ARMC5 in a patient diagnosed with meningioma and primary macronodular adrenal hyperplasia: a case report.Semantic proximity Read

The mutational landscape of ARMC5 in Primary Bilateral Macronodular Adrenal Hyperplasia: an updateSemantic proximity Read

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional ConsequencesSemantic proximity Read

Genetics of primary bilateral macronodular adrenal hyperplasia: a model for early diagnosis of Cushing's syndrome?Semantic proximity Read

ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family ReportSemantic proximity Read

Whole-genome sequencing revealed armadillo repeat containing 5 (ARMC5) mutation in a Chinese family with ACTH-independent macronodular adrenal hyperplasia.Semantic proximity Read

Molecular and Clinical Evidence for an<i>ARMC5</i>Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and MeningiomaSemantic proximity Read

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.Semantic proximity Read

Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) patient with ARMC5 mutations.Semantic proximity Read

Primary macronodular adrenal hyperplasia (PMAH) can be generated by a new ARMC5 germline variant (c.52C>T (p.Gln18X))Semantic proximity Read