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ALLMedicine™ Andermann Syndrome Center

Research & Reviews  2 results

First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation i...
https://doi.org/10.1002/ajmg.a.61110
American Journal of Medical Genetics. Part A; Pacheva I, Todorov T et. al.

Mar 15th, 2019 - Andermann syndrome (AS) is caused by mutation of SLC12A6 gene. It comprises severe progressive sensory and motor neuropathy with early onset, varying degree of agenesis of corpus callosum (ACC) and mental retardation. AS occurs occasionally among ...

Andermann syndrome
https://rarediseases.info.nih.gov/diseases/1537/andermann-syndrome

Mar 3rd, 2011 - Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms ...

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