Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Unolt, Marta M; Kammoun, Molka M; Nowakowska, Beata B; Graham, Gail E GE; Crowley, T Blaine TB; Hestand, Matthew S MS; Demaerel, Wolfram W; Geremek, Maciej M; Emanuel, Beverly S BS; Zackai, Elaine H EH; Vermeesch, Joris R JR; McDonald-McGinn, Donna D