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Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2

โœ Scribed by Vance, Jeffery M.; Barker, David; Yamaoka, Larry H.; Stajich, Jeffrey M.; Loprest, Lorraine; Hung, Wu-Yen; Fischbeck, Kenneth; Roses, Allen D.; Pericak-Vance, Margaret A.


Book ID
122307190
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
645 KB
Volume
9
Category
Article
ISSN
0888-7543

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Charcot-Marie-Tooth disease 1A (CMT1A) a
โœ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› Springer ๐ŸŒ English โš– 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