Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy
Hildebrandt, Clara, Anne Fulton, and Lance Rodan. 2021. “Homozygous Deletion of 21q22.2 in a Patient With Hypotonia, Developmental Delay, Cortical Visual Impairment, and Retinopathy”. Am J Med Genet A 185 (2): 555-60.