Clinical and ocular abnormalities in DEGCAGS syndrome —Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities

ConclusionsWe describe the 15th child to be presumably identified with the DEGCAGS syndrome and the first individual with homozygous missense variants in the ZNF699 gene who had complete clinical examination and detailed retinal imaging.

Source: Molecular Genetics & Genomic Medicine - November 28, 2023 Category: Genetics & Stem Cells Authors: Syed M. Ali, Dua A. AlMasri, Carlos E. Prada, Doris Lin, Thomas M. Bosley, Igor Kozak Tags: CLINICAL REPORT Source Type: research