Article

Autosomal dominant macular dystrophy associated with THRB: identification of new families and variants

2024-12-16

Abstract excerpt

<title>Abstract</title> <p><italic>THRB</italic>encodes thyroid hormone receptor β which produces two human isoforms (TRβ1 and TRβ2) by alternative splicing. The first <italic>THRB</italic> variant associated with autosomal dominant macular dystrophy (ADMD), NM_001354712.2:c.283+1G>A, was recently described. This study aims to refine the ophthalmologic phenotype, report a novel <italic>THRB </italic>variant, and...

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Literature Corpus work: 2dc6bf70-622c-5ccc-a955-88f1e8bd581e
DOI: 10.21203/rs.3.rs-5415667/v1

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