Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

Andrey A MarakhonovAnna A VoskresenskayaMaria Jose BallestaFedor A KonovalovTatyana A VasilyevaFiona Blanco-KellyNadezhda A PozdeyevaVitaly V KadyshevVanesa López-GonzálezEncarna GuillenCarmen AyusoRena A ZinchenkoMarta Corton

Published in: Orphanet journal of rare diseases (2020)

Our report not only expands the mutational spectrum of CRYAA but also identifies the genetic cause of the unusual ocular phenotype described in this report.

Keyphrases

genome wide
copy number
dna methylation
case report
optic nerve