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Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

✍ Scribed by Jia Huang; Xingyao Wu; Gladys Montenegro; Justin Price; Gaofeng Wang; Jeffery M. Vance; Michael E. Shy; Stephan Züchner


Book ID
106094714
Publisher
Springer
Year
2009
Tongue
English
Weight
512 KB
Volume
257
Category
Article
ISSN
0340-5354

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Charcot-Marie-Tooth disease 1A (CMT1A) a
✍ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 340 KB

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond