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 be...
| 第一著者: | |
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| フォーマット: | 論文 |
| 言語: | English |
| 出版事項: |
Oman Medical Specialty Board
2012-03-01
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| シリーズ: | Oman Medical Journal |
| 主題: | |
| オンライン･アクセス: | http://journals.indexcopernicus.com/fulltxt.php?ICID=989912 |