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

Similar Items

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