Whole exome sequencing reveals a dual diagnosis of BCAP31-related syndrome and glutaric aciduria III
Mol Genet Metab Rep. 2024 Jul 9;40:101117. doi: 10.1016/j.ymgmr.2024.101117. eCollection 2024 Sep. ABSTRACT BACKGROUND: Biochemical testing is a common first-tier approach in the setting of …