Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract

Eitemau Tebyg

• Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
  gan: Irum, Bushra, et al.
  Cyhoeddwyd: (2016)
• Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts
  gan: Irum, Bushra, et al.
  Cyhoeddwyd: (2017)
• GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A
  gan: Hall, Patricia L., et al.
  Cyhoeddwyd: (2017)
• Homozygous Deletion of Exons 2 and 3 of NPC2 Associated with Niemann–Pick Disease Type C
  gan: Hebbar, Malavika, et al.
  Cyhoeddwyd: (2016)
• Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing
  gan: Bigio, Benedetta, et al.
  Cyhoeddwyd: (2021)