PRJNA510071
Cataract transcriptome reveals gene changes leading to rare genetic disease diagnosis
The genetic diagnosis for a pediatric female patient with bilateral congenital total cataracts, poikiloderma, alopecia, and microdontia was obtained by a combination of RNA-seq analyses performed on the patient cataract lens (CLe), against an age-matched normal donor lens (Le), together with further analysis of the whole exome sequence (WES) raw data.