Article
Mutations in proteasome-related genes are associated with thyroid hemiagenesis.
Endocrine - 1 May 2017
Budny Bartlomiej, Szczepanek-Parulska Ewelina, Zemojtel Tomasz, Szaflarski Witold, Rydzanicz Malgorzata, Wesoly Joanna, Handschuh Luiza, Wolinski Kosma, Piatek Katarzyna, Niedziela Marek, Ziemnicka Katarzyna, Figlerowicz Marek, Zabel Maciej, Ruchala Marek
Abstract excerpt
PURPOSE: Human thyroid development is a complex and still unexplained process. Thyroid hemiagenesis is a congenital anomaly, where one of the thyroid lobes fails to develop. In the majority of patients with thyroid hemiagenesis, the genetic background remains unknown. The aim of the study was to search for novel genetic contributors to the etiology of thyroid hemiagenesis. METHODS: A cohort of 34 sporadic...
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