DOI: 10.1002/ccr3.73614 ISSN: 2050-0904
A Novel Homozygous Frameshift Variant in
ZNF699
Associated With
DEGCAGS
Syndrome With Severe Transfusion‐Dependent Anemia in an Indian Child: A Case
Arimanda Chaitanya Laasya Reddy, A. Vamshee Priya, Aditya Pachwa, Boilla Abhignya Reddy, Lakshya Nehal Samineni, Lanka Gourav Reddy ABSTRACT
In children with unexplained multisystem involvement—global developmental delay, dysmorphism, skeletal anomalies, and severe transfusion‐dependent anemia—especially from consanguineous families, whole‐exome sequencing should be pursued early to enable timely diagnosis, proactive iron chelation, and genetic counseling.