KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

Eitemau Tebyg

• Biallelic variants in KIF14 cause intellectual disability with microcephaly
  gan: Makrythanasis, Periklis, et al.
  Cyhoeddwyd: (2018)
• Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
  gan: Carneiro, Thaise NR, et al.
  Cyhoeddwyd: (2018)
• Novel <i>KIF11</i> Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up
  gan: Ashley H. Yaskanich, et al.
  Cyhoeddwyd: (2025-04-01)
• Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
  gan: Gamba, Bruno F., et al.
  Cyhoeddwyd: (2016)
• A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis
  gan: AGHA, ZEHRA, et al.
  Cyhoeddwyd: (2015)