Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24886
Abstract: The Protein tyrosine phosphatase receptor Q (PTPRQ) gene encodes a member of the type III receptor‐like protein tyrosine phosphatase family found in the stereocilium. Mutations in PTPRQ are mostly associated with deafness, autosomal recessive type… read more here.
Keywords: progressive sensorineural; hearing; delayed progressive; hearing loss ... See more keywords
Progressive sensorineural hearing loss many years preceding completion of Susac's syndrome triad: A case report.
Sign Up to like & getrecommendations! Published in 2020 at "Multiple sclerosis and related disorders"
DOI: 10.1016/j.msard.2019.101436
Abstract: Susac's syndrome (SuS) is a rare disorder with a clinical triad of encephalopathy, sensorineural hearing loss, and branch retinal artery occlusions. We report a 7-year-old girl who presented with chronic, progressive sensorineural hearing loss, who,… read more here.
Keywords: hearing loss; sensorineural hearing; loss; susac syndrome ... See more keywords