Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay

Lignende værker

• The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
  af: Wayhelova, Marketa, et al.
  Udgivet: (2019)
• De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies
  af: Dinwiddie, Darrell L, et al.
  Udgivet: (2013)
• Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
  af: Smetana, Jan, et al.
  Udgivet: (2018)
• ASXL1 frameshift mutations drive inferior outcomes in CMML without negative impact in MDS
  af: Sallman, David A, et al.
  Udgivet: (2017)
• A Novel Frameshift Mutation in Abnormal Spindle-Like Microcephaly (ASPM) Gene in an Iranian Patient with Primary Microcephaly: A Case Report
  af: BAZGIR, Afsaneh, et al.
  Udgivet: (2019)