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Article

SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

Clinical endocrinology - 1 May 2016

Owens Martina, Kivuva Emma, Quinn Anthony, Brennan Paul, Caswell Richard, Lango Allen Hana, Vaidya Bijay, Ellard Sian

Abstract excerpt

BACKGROUND: Mucosal neuromas, thickened corneal nerves and marfanoid body habitus are characteristic phenotypic features of multiple endocrine neoplasia type 2B (MEN2B) and often provide an early clue to the diagnosis of the syndrome. Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation;...

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Source

Identifiers

PMID: 26708403
DOI: 10.1111/cen.13008

Genes

SOS1
RET

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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