De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies

Eitemau Tebyg

• Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay
  gan: Wayhelova, Marketa, et al.
  Cyhoeddwyd: (2019)
• De Novo Loss-of-Function Variants in STAG2 are Associated with Developmental Delay, Microcephaly and Congenital Anomalies
  gan: Mullegama, S. V., et al.
  Cyhoeddwyd: (2017)
• SET de novo frameshift variants associated with developmental delay and intellectual disabilities
  gan: Richardson, Ruth, et al.
  Cyhoeddwyd: (2018)
• Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies
  gan: Krall, Max, et al.
  Cyhoeddwyd: (2019)
• Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
  gan: Weiss, Karin, et al.
  Cyhoeddwyd: (2017)