A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes

BACKGROUND: Hereditary tumour predisposition syndromes may increase the risk for development of thyroid nodules at a young age. We present the case of an adolescent female with Cowden syndrome who had some atypical phenotypic features which overlapped with the DICER1 syndrome. MATERIAL AND METHODS:...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Eur Thyroid J
Prif Awduron: Bouron-Dal Soglio, Dorothée, de Kock, Leanne, Gauci, Richard, Sabbaghian, Nelly, Thomas, Elizabeth, Atkinson, Helen C., Pachter, Nicholas, Ryan, Simon, Walsh, John P., Kumarasinghe, M. Priyanthi, Carpenter, Karen, Aydoğan, Ayça, Stewart, Colin J.R., Foulkes, William D., Choong, Catherine S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: S. Karger AG 2018
Pynciau:
Clinical Thyroidology / Original Paper
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5836238/
https://ncbi.nlm.nih.gov/pubmed/29594054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000481620
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