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Article

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Advances in experimental medicine and biology - 1 Jan 2019

Mechaussier Sabrina, Marlin Sandrine, Kaplan Josseline, Rozet Jean-Michel, Perrault Isabelle

Abstract excerpt

The specific association of Leber congenital amaurosis (LCA) or early-onset severe retinal dystrophy (LCA-like) with sensorineural hearing loss (SHL) is uncommon. Recently, we ascribed some of these distinctive associations to dominant and de novo mutations in the β-tubulin 4B isotype-encoding gene (TUBB4B), providing a link between a sensorineural disease and anomalies in microtubules behavior. Here, we report...

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Identifiers

PMID: 31884617
DOI: 10.1007/978-3-030-27378-1_38

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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