Published Date: November 6, 2019

Full Text Article

A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease


Authors: Charlotte A Sherlaw-Sturrock, Geraldine Cassidy, Kate Glover, Swati Naik


Clin Dysmorphol. 2020 Jan;29(1):65-68. doi: 10.1097/MCD.0000000000000305.

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PMID: 31688096DOI: 10.1097/MCD.0000000000000305