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

8 Citations (Scopus)
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Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology