Ewing, Sarah A
Mayo Clinic
Department of Clinical Genomics Mayo Clinic Rochester Minnesota.
Citations 1
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
Gupta, Aditi , Ewing, Sarah, Renaud, Deborah L. , Hasadsri, Linda , Raymond, Kimiyo , Klee, Eric W. , Gavrilova, Ralitza H. , Ewing, Sarah A, Raymond, Kimiyo M
Clinical Case Reports | February 20, 2019 | Volume: 7 | Issue: 4 | Pages: 632-637
Key Clinical MessageWe report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2 gene mutation database and the clinical spectrum of patients with deficiencies in the heparan sulfate pathway.