Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not b...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Oman Medical Specialty Board
2012-03-01
|
| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | http://journals.indexcopernicus.com/fulltxt.php?ICID=989912 |