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Response to Weisschuh's "Comment: a novel missense mutation in BEST1 associated with an autosomal-dominant vitreoretinochoroidopathy (ADVIRC) phenotype".

Fukutaro ManoCynthia PfannkochStephen A LoBueTimothy W OlsenAlan D MarmorsteinJose S Pulido
Published in: Ophthalmic genetics (2019)
Keyphrases
  • intellectual disability
  • autism spectrum disorder