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Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus

Amira Masri1, Jun Liao2, Ruth Kornreich2

  • 1Division of Child Neurology, Department of Pediatrics, Faculty of Medicine, The University of Jordan, Amman, Jordan.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|March 12, 2014
PubMed

Keywords:
HEXBJordanNystagmusSandhoff disease

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