R. A. Bezerra da Silva

Expanding the Phenotypic Spectrum of Degcags Syndrome: Novel Craniofacial and Oral Findings

ABSTRACT Aims: Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS) syndrome (OMIM #619488) is a rare autosomal recessive disorder caused by pathogenic variants in ZNF699 and characterized by developmental delay and multisystem involvement. Although several syst...