Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2087
Abstract: Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic–pituitary‐gonadal axis (HPG). MKRN3 defects are well‐known causes of CPP, while DLK1 mutations were recently identified in a few patients with… read more here.
Keywords: precocious puberty; central precocious; puberty; familial central ... See more keywords
Discovery of a Chinese familial deletion 18p syndrome due to a false positive result on noninvasive prenatal testing
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Obstetrics and Gynaecology Research"
DOI: 10.1111/jog.14565
Abstract: Clinical manifestations of deletion 18p syndrome vary a lot, which makes it easily overlooked in the clinical practice. Familial transmission of deletion 18p syndrome is rare. We report a Chinese familial deletion 18p syndrome, which… read more here.
Keywords: 18p syndrome; deletion; chinese familial; deletion 18p ... See more keywords