Publication | Open Access

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsPediatricsAbnormal DevelopmentAffected ParentsMedicineSevere PhenotypeDisorders Of Sex DevelopmentNeurogenetics