Andermann syndrome in a pakistani family caused by a novel mutation in SLC12A6
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Elsevier
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5
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Abstract
Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characte...
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Muñoz, Tatiana & Krishnan, Pradeep & Vajsar, Jiri & Laughlin, Suzanne & Yoon, Grace. (2017). Andermann Syndrome in a Pakistani Family Caused by a Novel Mutation in SLC12A6. Journal of Pediatric Neurology. 15. 10.1055/s-0037-1599831.
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