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G.P.11.10 Charcot-Marie-Tooth (CMT) disease caused by 17p11.2-p12 duplication in a large cohort of Polish patients

✍ Scribed by A. Kochanski; D. Kabzinska; J. Pierscinska; I. Hausmanowa-Petrusewicz


Book ID
116793066
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
46 KB
Volume
17
Category
Article
ISSN
0960-8966

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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 πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 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