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article · Annals of Human Genetics

First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)

Abstract

We report on the first cohort of African IRD patients investigated by cWGS. Our results indicate that also in Congolese patients, the spectrum of causal genes is broad and we expand the spectrum of causal variants in known IRD genes. This report demonstrates the power of cWGS, especially for genetically heterogeneous diseases.

Research topics

  • Retinal Development and Disorders
  • Retinal Diseases and Treatments
  • Genomics and Rare Diseases

Sustainable Development Goals

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DOI: 10.1111/ahg.12604

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