Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation

We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous mutation of the TPO gene. She underwent total thyroidectomy at the age of seven years because of the development of a multinodular goiter. BRRS pa...

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Detalles Bibliográficos
Autores principales: Vincenzi, Gaia, Petralia, Ilenia Teresa, Abbate, Marco, Tarantola, Giulia, Meroni, Silvia Laura Carla, Maggiore, Riccardo, Mari, Gilberto, Patricelli, Maria Grazia, Schiavo Lena, Marco, Barera, Graziano, Vigone, Maria Cristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10285479/
https://www.ncbi.nlm.nih.gov/pubmed/37361526
http://dx.doi.org/10.3389/fendo.2023.1205785

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