Associated Papers
An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.
Orsini A et al.
Genes, 2024
A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
Accogli A et al.
American Journal of Medical Genetics. Part A, 2018
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