Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants
复制标题
EXT2 基因变异患者的发育迟缓、面部特征粗糙和癫痫
作者：
Aditi Gupta;Sarah Ewing;D. Renaud;L. Hasadsri;K. Raymond;E. Klee;R. Gavrilova
我们报告了一名患者，由于EXT2复合杂合子可能的致病性变异，导致发育迟缓、自闭症、癫痫、大头畸形、面部畸形、胃肠道和行为问题。本病例报告扩展了EXT2基因突变数据库和硫酸乙酰肝素途径缺陷患者的临床谱。
We 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.