Usher Syndrome: Genetics of a Human Ciliopathy

Fuster-Garcia, C; Garcia-Bohorquez, B; Rodriguez-Munoz, A; Aller, E; Jaijo, T; Millan, JM; Garcia-Garcia, G

Millan, JM (corresponding author), Inst Invest Sanitaria La Fe IIS La Fe, Mol Cellular & Genom Biomed Res Grp, Valencia 46026, Spain.; Millan, JM (corresponding author), Ctr Invest Principe Felipe, Unidad Mixta Enfermedades Raras IIS La Fe, Valencia 46026, Spain.; Millan, JM (corresponding author), Hosp Univ & Politecn La Fe, Biomed Res Network Rare Dis, Valencia 46026, Spain.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021; 22 (13):

Abstract

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, ......

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