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Syndromic Retinitis Pigmentosa: A 15-Patient Study

Ianne Pessoa Holanda1, Priscila Hae Hyun Rim2, Rare Genomes Project Consortium3

  • 1Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.

Genes
|April 27, 2024
PubMed
Summary

Syndromic retinitis pigmentosa (SRP) exhibits significant genetic heterogeneity. Molecular analysis is crucial for diagnosing rare SRP conditions, identifying novel variants, and understanding disease mechanisms.

Keywords:
Bardet–Biedl syndromeUsher syndromegenetic testingmolecular diagnosesprecision medicineretinitis pigmentosa

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