Biblio
.
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review. Eur J Med Genet. 2023:104707.
. Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1. Eur J Med Genet. 2022:104449.
. Phenotype of ST3GAL3 Deficient Patients: a Case and Review of the Literature. Eur J Med Genet. 2021:104250.