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Disease: Pachygyria- frontotemporal

  • A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature
  • A particular type of epilepsy in patients with congenital hemiparesis associated with polymicrogyria or unilateral pachygyria
  • Animal models of neurodegenerative diseases
  • Autosomal recessive frontotemporal pachygyria
  • Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
  • Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
  • Frontotemporal abnormal gyration with infantile spasms in identical twins
  • Frontotemporal pachygyria-two new patients
  • Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders
  • Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
  • Sedaghatian spondylometaphyseal dysplasia with pachygyria and absence of the corpus callosum
  • SPECT and MRI findings in a case of extensive neuronal migration disorder
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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