The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome

Lignende værker

• Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
  af: Benoit-Pilven, Clara, et al.
  Udgivet: (2020)
• Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
  af: Clara Benoit-Pilven, et al.
  Udgivet: (2020-01-01)
• TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
  af: Dines, Jennifer N., et al.
  Udgivet: (2018)
• Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1
  af: Krøigård, Anne B., et al.
  Udgivet: (2016)
• Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
  af: Dines, Jennifer N., et al.
  Udgivet: (2018)