Absent Meibomian Glands and Cone Dystrophy in ADULT Syndrome: Identification by Whole Exome Sequencing of Pathogenic Variants in Two Causal Genes TP63 and CNGB3
OPHTHALMIC GENETICS（2024）
关键词
ADULT syndrome,ectrodactyly,ectodermal dysplasia,cone dystrophy,absent meibomian glands,TP63,CNGB3,whole exome sequencing
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