Polycystic liver disease genes: Practical considerations for genetic testing

نویسندگان

چکیده

The development of a polycystic liver is characteristic the monogenic disorders: autosomal dominant kidney disease (ADPKD), recessive (ARPKD), and (ADPLD). Respectively two one genes mainly cause ADPKD ARPKD. In contrast, ADPLD caused by at least six different which combined do not even explain in over half population. Genetic testing performed to confirm likelihood developing PKD if renal therapy essential. However, pure patients are frequently genetically screened as knowledge about genotype-phenotype correlation currently limited. This paper will clarify essence genetic patients.

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ژورنال

عنوان ژورنال: European Journal of Medical Genetics

سال: 2021

ISSN: ['1769-7212', '1878-0849']

DOI: https://doi.org/10.1016/j.ejmg.2021.104160