SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

2.50
Hdl Handle:
http://hdl.handle.net/11287/595409
Title:
SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
Authors:
Owens, Martina; Kivuva, Emma; Quinn, A; Brennan, P; Caswell, Richard; Allen, H L; Vaidya, Bijay; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
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 phaeochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'.
Citation:
SOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 2016 May;84(5):715-9
Publisher:
Wiley
Journal:
Clinical endocrinology
Issue Date:
28-Dec-2015
URI:
http://hdl.handle.net/11287/595409
DOI:
10.1111/cen.13008
PubMed ID:
26708403
Additional Links:
http://dx.doi.org/10.1111/cen.13008
Type:
Journal Article
Language:
en
ISSN:
1365-2265
Appears in Collections:
2015 RD&E publications; Diabetes/Endocrine Services; Clinical Genetics (Peninsula Genetics); Molecular Genetics; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorOwens, Martinaen
dc.contributor.authorKivuva, Emmaen
dc.contributor.authorQuinn, Aen
dc.contributor.authorBrennan, Pen
dc.contributor.authorCaswell, Richarden
dc.contributor.authorAllen, H Len
dc.contributor.authorVaidya, Bijayen
dc.contributor.authorEllard, Sianen
dc.date.accessioned2016-02-02T13:23:20Zen
dc.date.available2016-02-02T13:23:20Zen
dc.date.issued2015-12-28en
dc.identifier.citationSOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. 2016 May;84(5):715-9en
dc.identifier.issn1365-2265en
dc.identifier.pmid26708403en
dc.identifier.doi10.1111/cen.13008en
dc.identifier.urihttp://hdl.handle.net/11287/595409en
dc.description.abstractMucosal 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 phaeochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'.en
dc.languageENGen
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttp://dx.doi.org/10.1111/cen.13008en
dc.rightsArchived with thanks to Clinical endocrinologyen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleSOS1 frameshift mutations cause Pure Mucosal Neuroma Syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.en
dc.typeJournal Articleen
dc.identifier.journalClinical endocrinologyen
dc.description.fundingWellcome (098395)en
dc.type.versionIn press (epub ahead of print)en

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