Ocular manifestations of ectodermal dysplasia.

Daphna Landau PratWilliam R KatowitzAlanna StrongJames A Katowitz

Published in: Orphanet journal of rare diseases (2021)

Ectodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

Keyphrases

copy number
genome wide
genome wide identification
dna methylation
optic nerve
genome wide analysis
gene expression
transcription factor