Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant.

Felipe L LimaSebastião CronembergerAnna L B AlbuquerqueLuciana F BarbosaFrancine R CunhaArtur W VelosoAlberto Diniz-FilhoEitan FriedmanLuiz Armando de Marco

Published in: Ophthalmic genetics (2023)

We here report a novel splice-affecting homozygous pathogenic variant in the ASPH gene that was detected in a Brazilian patient with clinical features of Traboulsi syndrome.

Keyphrases

case report
gene expression
genome wide
early onset
dna methylation