Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2116649
Abstract: Bestrophinopathies are genetic retinal disorders characterized by variants in the BEST1 gene, formerly named VMD2. They include Best vitelliform macular dystrophy, adult-onset foveomacular vitelliform dystrophy, autosomal recessive bestrophinopathy (ARB), and autosomal dominant vitreoretinochoroidopathy (1). The… read more here.
Keywords: variants best1; best1 gene; associated compound; recessive bestrophinopathy ... See more keywords
A Calcifying Odontogenic Cyst Associated with Compound Odontoma Mimicking a Tooth Germ
Sign Up to like & getrecommendations! Published in 2021 at "Case Reports in Dentistry"
DOI: 10.1155/2021/9991772
Abstract: Calcifying odontogenic cyst (COC) is a rare cyst that affects mainly the anterior region of the jaws. Generally, it appears as a unilocular radiolucent lesion containing peripheral foci of calcification, but with radiographic variations depending… read more here.
Keywords: calcifying odontogenic; cyst associated; odontogenic cyst; cyst ... See more keywords
Congenital analbuminemia associated with compound heterozygous novel nucleotide variations in a young adult with coronary thrombosis.
Sign Up to like & getrecommendations! Published in 2023 at "Annales de biologie clinique"
DOI: 10.1684/abc.2023.1806
Abstract: Congenital analbuminemia (CAA) is a very rare genetic disorder characterized by a significant reduced or even complete absence of human serum albumin. Our data describe the clinical features and laboratory results of a case confirmed… read more here.
Keywords: nucleotide variations; compound heterozygous; associated compound; analbuminemia associated ... See more keywords