article_metadata: Margherita Scarpato Francesco Testa Anna Nesti Roberta Zeuli Rosa Boccia Gennaro Auletta Sandro Banfi Francesca Simonelli Marianthi Karali
article_metadata: 10.1002/mgg3.70068
article_metadata: Mol Genet Genomic Med
article_metadata: 2025 Feb;13(2):e70068.
article_metadata: tubb4b progressive cone‐rod dystrophy sensorineural hearing loss syndromic inherited retinal disease
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39876836/
article_metadata: Cone-Rod Dystrophies / genetics Cone-Rod Dystrophies / pathology Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Mutation, Missense Pedigree Tubulin / chemistry Tubulin / genetics
article_metadata: Cone-Rod Dystrophies / genetics Cone-Rod Dystrophies / pathology Hearing Loss, Sensorineural / genetics Hearing Loss, Sensorineural / pathology Mutation, Missense Pedigree Tubulin / chemistry Tubulin / genetics Case Reports Adult Child Female Humans Male Tubulin
article_metadata: PMC11775458
article_metadata: 39876836
article_metadata: A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss
article_metadata: 2025