Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
Jan-Philipp Bodenbender,
Valerio Marino,
Julia Philipp
et al.
Abstract:Our purpose was to elucidate the genotype and ophthalmological and audiological phenotype in TUBB4B-associated inherited retinal dystrophy (IRD) and sensorineural hearing loss (SNHL), and to model the effects of all possible amino acid substitutions at the hotspot codons Arg390 and Arg391. Six patients from five families with heterozygous missense variants in TUBB4B were included in this observational study. Ophthalmological testing included best-corrected visual acuity, fundus examination, optical coherence t… Show more
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