1.
Clin Genet
; 105(6): 683-685, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38511226
RESUMO
A case of a newborn with tetralogy of Fallot, corpus callosum hypoplasia, and phenotypic features similar to DiGeorge syndrome. Chromosomal microarray analysis did not reveal any alterations. Whole exome sequencing and Sanger sequencing identified a de novo variant in the HIRA gene resulting in the loss of the start codon.