Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB

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

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Main Authors: Lidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, María Inmaculada Martín-Mérida, Mathieu Quinodoz, Mukhtar Ullah, Ester Carreño, María Pilar Martin-Gutierrez, Blanca García-Sandoval, Pablo Minguez, Carlo Rivolta, Marta Corton, Carmen Ayuso
Format: Article
Language:English
Published: Nature Portfolio 2025-04-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-025-97768-9
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