The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51733
Abstract: Oculopharyngeal muscular dystrophy (OPMD) is a late‐onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and… read more here.
Keywords: phenotypic genotypic; muscular dystrophy; chinese patients; oculopharyngeal muscular ... See more keywords
Phenotypic and genotypic features of POC1B-associated cone dystrophy.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2204361
Abstract: PURPOSE Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. This study describes the inconspicuous clinical features of POC1B-associated CD in two Saudi families. METHODS This is a… read more here.
Keywords: phenotypic genotypic; poc1b associated; cone dystrophy; features poc1b ... See more keywords
Dissecting the genotypic features of a fluoroquinolone-resistant Pseudomonas aeruginosa ST316 sublineage causing ear infections in Shanghai, China
Sign Up to like & getrecommendations! Published in 2023 at "Microbial Genomics"
DOI: 10.1099/mgen.0.000989
Abstract: Limited information is available regarding the genomic characteristics of P. aeruginosa causing ear infections. Our aim is to characterize the genotypic features of an emerging ST316 sublineage causing aural infections in Shanghai. A total of… read more here.
Keywords: ear infections; st316 sublineage; sublineage causing; causing ear ... See more keywords