Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants - Bauwens, Miriam; De Man, Vincent; Audo, Isabelle; Balikova, Irina; Zein, Wadih M.; Smirnov, Vasily; Held, Sebastian; Vermeer, Sascha; Loos, Elke; Jacob, Julie; Casteels, Ingele; Désir, Julie; et al. (Clinical genetics, 2025)
Keywords: Adult; Aged; ARSG; Arylsulfatase; Arylsulfatases - genetics; canine variant p.(Arg99His); Dystrophy; Ectopic expression; Enzymatic activity; Female; Genetic Predisposition to Disease; Hearing loss; Humans; lysosomal sulfatase; Male; Middle Aged; Mutation; Neuronal ceroid lipofuscinosis; Original; Pedigree; Phenotype; Phenotypes; Retinitis pigmentosa; retinitis pigmentosa (RP); Retinitis Pigmentosa - genetics; Retinitis Pigmentosa - pathology; rod‐cone dystrophy (RCD); sensorineural hearing loss (SNHL); Usher syndrome (USH); Usher Syndromes - genetics; Usher's syndrome; Vestibular system; lysosomal sulfatase; rod‐cone dystrophy (RCD); retinitis pigmentosa (RP); sensorineural hearing loss (SNHL); canine variant p.(Arg99His); Usher syndrome (USH); ARSG