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SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.
Owens, Martina; Kivuva, Emma; Quinn, Anthony; Brennan, Paul; Caswell, Richard; Lango Allen, Hana; Vaidya, Bijay; Ellard, Sian.
Afiliação
  • Owens M; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Kivuva E; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Quinn A; Department of Ophthalmology, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Brennan P; Northern Genetics Service, Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Lango Allen H; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Vaidya B; Department of Diabetes and Endocrinology, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Ellard S; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
Clin Endocrinol (Oxf) ; 84(5): 715-9, 2016 May.
Article em En | MEDLINE | ID: mdl-26708403
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Bucais / Mutação da Fase de Leitura / Predisposição Genética para Doença / Proteína SOS1 / Mucosa Bucal / Neuroma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias Bucais / Mutação da Fase de Leitura / Predisposição Genética para Doença / Proteína SOS1 / Mucosa Bucal / Neuroma Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article