De novo partial duplication of 17p associated with Charcot-Marie-Tooth disease type 1A.
Fernández-Torre
J L
JL
Otero
B
B
Alvarez
V
V
Hernando
I
I
Fernández-Toral
J
J
D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D009431:Neural Conduction / Q000502:physiology