Phenotypic spectrum of 19p13.3 microdeletion: a fatal infant case with severe cardiomegaly and gastrointestinal manifestations
The case of an 8-month-old female infant referred for evaluation of multisystemic complications presented with gastrointestinal complications including vomiting and diarrhea, expanding the clinical spectrum of 19p13.3 microdeletion syndrome and underscores the importance of genomic analysis in understanding the underly...