Further delineation of familial polycystic ovary syndrome (PCOS) via whole‐exome sequencing: PCOS‐related rare FBN3 and FN1 gene variants are identified
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology Research"
DOI: 10.1111/jog.15187
Abstract: To identify pathogenic rare coding Mendelian/high‐effect size variant(s) by whole‐exome sequencing in familial polycystic ovary syndrome (PCOS) patients to elucidate PCOS‐related pathways. read more here.
Keywords: familial polycystic; exome sequencing; polycystic ovary; ovary syndrome ... See more keywords
Familial polycystic kidneys with no genetic confirmation: Are we sure it is ADPKD?
Sign Up to like & getrecommendations! Published in 2022 at "Clinical nephrology"
DOI: 10.5414/cn110822
Abstract: Autosomal dominant polycystic kidney disease (ADPKD) is the most common heritable multifocal cystic disease encountered in clinical practice, and it is usually diagnosed in patients with family history by the evidence of markedly enlarged kidneys… read more here.
Keywords: familial polycystic; kidneys genetic; genetic confirmation; heritable multifocal ... See more keywords