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Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.

Che-Yuan KuoMing-Yi ChungShih-Jen Chen
Published in: Journal of medical genetics (2023)
missense mutations. Genetic testing may be crucial for early diagnosis and may play a key role in the development of future treatment strategies.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • current status