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...
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| Médium: | Článek |
| Jazyk: | English |
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Oman Medical Specialty Board
2012-03-01
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| Edice: | Oman Medical Journal |
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| On-line přístup: | http://journals.indexcopernicus.com/fulltxt.php?ICID=989912 |