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Original Research

Published on 21 Jul 2023

Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

in Molecular and Cellular Pathology

  • Elena Fernández-Suárez
  • MarĂ­a González-del Pozo
  • Alejandro GarcĂ­a-Núñez
  • Cristina MĂ©ndez-Vidal
  • Marta MartĂ­n-Sánchez
  • JosĂ© Manuel MejĂ­as-Carrasco
  • Manuel Ramos-JimĂ©nez
  • MarĂ­a JosĂ© Morillo-Sánchez
  • Enrique RodrĂ­guez-de la RĂşa
  • Salud Borrego
Frontiers in Cell and Developmental Biology
doi 10.3389/fcell.2023.1197744
  • 3,955 views
  • 12 citations