SOS1frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B-Reference-Cited by-同舟云学术

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SOS1frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B

Published:2016-02-04 Issue:5 Volume:84 Page:715-719
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Owens Martina¹,Kivuva Emma²,Quinn Anthony³,Brennan Paul⁴,Caswell Richard⁵,Allen Hana Lango⁵,Vaidya Bijay⁶,Ellard Sian¹⁵

Affiliation:

1. Department of Molecular Genetics; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

2. Department of Clinical Genetics; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

3. Department of Ophthalmology; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

4. Northern Genetics Service; Newcastle Hospitals NHS Foundation Trust; Newcastle upon Tyne UK

5. Institute of Biomedical and Clinical Science; University of Exeter Medical School; Exeter UK

6. Department of Diabetes and Endocrinology; Royal Devon and Exeter NHS Foundation Trust; Exeter UK

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference20 articles.

1. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update;Wells;Journal of Endocrinology and Metabolism,2013

2. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours;Eng;Human Molecular Genetics,1994

3. Multiple endocrine neoplasia type 2B: early diagnosis by multiple mucosal neuroma and its DNA analysis;Lee;Annals of Dermatology,2010

4. Multiple endocrine neoplasia type 2: an overview;Moline;Genetics in Medicine,2011

5. Phenotypic multiple endocrine neoplasia type 2B, without endocrinopathy or RET gene mutation: implications for management;Spyer;Thyroid,2006

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2. Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B;BMC Ophthalmology;2023-06-12

3. Conjunctival and Lingual mucosal neuromas without multiple endocrine neoplasia type 2B;American Journal of Ophthalmology Case Reports;2023-06

4. Ras Isoforms from Lab Benches to Lives—What Are We Missing and How Far Are We?;International Journal of Molecular Sciences;2021-06-17

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