Key references: Diagnosis of 22q11.2 deletion syndrome

  • McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. GeneReviews((R)). Seattle (WA); 1993. https://www.ncbi.nlm.nih.gov/pubmed/20301696