A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder

類似資料

• Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON
  著者:: Abdelrahman, Hanadi A., 等
  出版事項: (2019)
• The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
  著者:: Zolotushko, Jenny, 等
  出版事項: (2011)
• Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay
  著者:: Ben-Salem, Salma, 等
  出版事項: (2014)
• Hereditary spastic paraplegia with thin corpus callosum
  著者:: Raina, Sujeet, 等
  出版事項: (2009)
• LINS, a modulator of the WNT signaling pathway, is involved in human cognition
  著者:: Akawi, Nadia A, 等
  出版事項: (2013)