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Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes.

Manar ZaghlulaDaniel G GlazeGregory M EnnsLorraine PotockiAloysia L SchwabeBernhard Suter
Published in: American journal of medical genetics. Part A (2018)
Keyphrases
  • case report