A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects.

Ítems similars

• Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
  per: Guo, Tingwei, et al.
  Publicat: (2015)
• Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition
  per: Unolt, Marta, et al.
  Publicat: (2019)
• Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms
  per: Shaikh, Tamim H., et al.
  Publicat: (2007)
• 22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1610 Consecutive Cases
  per: Peyvandi, Shabnam, et al.
  Publicat: (2013)
• Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status
  per: Xie, Hongbo M., et al.
  Publicat: (2019)