BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing

Samankaltaisia teoksia

• Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
  Tekijä: Shimizu, Kenji, et al.
  Julkaistu: (2020)
• Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
  Tekijä: Cacciagli, Pierre, et al.
  Julkaistu: (2013)
• New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype
  Tekijä: Fraint, Avram, et al.
  Julkaistu: (2014)
• Congenital hypomyelinating neuropathy.
  Tekijä: Harati, Y, et al.
  Julkaistu: (1985)
• Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing
  Tekijä: Sun, Zhan-fang, et al.
  Julkaistu: (2014)