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Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

✍ Scribed by NICOLAS DUPRÉ; JEAN-PIERRE BOUCHARD; LOUISE COSSETTE; DENIS BRUNET; MICHEL VANASSE; BERNARD LEMIEUX; GILLES MATHON; JACK PUYMIRAT


Book ID
111395479
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
198 KB
Volume
883
Category
Article
ISSN
0890-6564

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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