@misc{Kurzyńska_Anna_Genetic_2022,
 author={Kurzyńska, Anna},
 address={Kraków},
 howpublished={online},
 year={2022},
 school={Rada Dyscypliny Nauki medyczne},
 language={pol; eng},
 abstract={Molecular testing is one of the key and rapidly developing diagnostic methods in modern endocrinology. Searching for genetic alterations not only makes it possible to establish the proper diagnosis or predict the clinical course of a given disease entity, but can also provide opportunities for therapy, especially in the era of personalized medicine. The purpose of this dissertation was to address issues related to genetic testing in selected rare endocrine disorders. Objects of the study: 1. A high correlation between genotype and phenotype in patients with the classical form of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. A novel pathogenic variant of CYP21A2 previously not reported in the literature, was identified and characterized. 2. Assess the significance of selected single nucleotide genetic variants in the susceptibility and clinical course of neuroendocrine tumors. 3. Linking the atypical clinical course of aggressive hereditary paraganglioma to a pathogenic variant in the SDHD gene, previously described as of "uncertain clinical significance".},
 title={Genetic testing in selected rare endocrine disorders},
 type={Praca doktorska},
 keywords={CAH, NET, paraganglioma, genetic testing},
}