Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3 .

Syrine AbidRym MaamouriAnissa ZaouakImen RejebSana KarouiMolka SebaiHouweyda JilaniYasmina ElaribiSami FennicheMonia CheourFrédéric BilanLamia Ben Jemaa

Published in: Ophthalmic genetics (2023)

-related congenital cone dystrophy.

Keyphrases

bioinformatics analysis
early onset
copy number
genome wide
genome wide identification
dna methylation
gene expression
transcription factor
childhood cancer