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

Author
Sherlaw-Sturrock, Charlotte A
Cassidy, Geraldine
Glover, Kate
Naik, Swati
Affiliation
Birmingham Women's and Children's NHS Foundation Trust; Coventry and Warwickshire Partnership NHS Trust
Publication date
2020-01-30
Subject
Genetics

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Abstract
No abstract available.
Citation
Sherlaw-Sturrock, Charlotte A.a; Cassidy, Geraldineb; Glover, Katea; Naik, Swatia. A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease. Clinical Dysmorphology 29(1):p 65-68, January 2020. | DOI: 10.1097/MCD.0000000000000305
Type
Article
Handle
http://hdl.handle.net/20.500.14200/7262
DOI
10.1097/MCD.0000000000000305
Journal
Clinical Dysmorphology
Publisher
Lippincott, Williams and Wilkins
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