p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.

@article{Hebbar2018pArg69TrpIR,
  title={p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Gouti{\`e}res syndrome.},
  author={Malavika Hebbar and Anil Vittal Kanthi and Aroor Shrikiran and Snehal Shivaji Patil and Mamta N. Muranjan and Febi Francis and B VishnuBhat and Katta Mohan Girisha and Anju Shukla},
  journal={American journal of medical genetics. Part A},
  year={2018},
  volume={176 1},
  pages={
          156-160
        }
}
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white matter abnormalities, hepatosplenomegaly, cerebrospinal fluid lymphocytosis, and elevated interferon-α levels, thus mimicking congenital viral infections. It is a genetically heterogeneous condition and autosomal recessive and autosomal dominant forms with variations in seven genes known till date. Variations in RNASEH2C cause an autosomal recessive form of AGS. Here we… CONTINUE READING

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