Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant

  • Deciphering Developmental Disorders (DDD) Study
  • , Thabo Michael Yates
  • , Oon Hui Ng
  • , Amaka C. Offiah
  • , Josh Willoughby
  • , Jonathan N. Berg
  • , Diana S. Johnson (Lead / Corresponding author)

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)
199 Downloads (Pure)

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Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology