Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

Aboulfazl RadMaryam NajafiFatemeh SuriSoheila AbediniStephen LoumEhsan Ghayoor KarimianiNarsis DaftarianDavid MurphyMohammad DoostiAfrooz MoghaddasiHamid AhmadiehHamideh SabbaghiMohsen RajatiNarges HashemiBarbara VonaMiriam Schmidts

Published in: Orphanet journal of rare diseases (2022)

Our report substantially expands the molecular genetics and clinical basis of autosomal recessive STL and provides an overview about allelic COL9A3 disorders.

Keyphrases

intellectual disability
muscular dystrophy
copy number
case report
autism spectrum disorder
bioinformatics analysis
gene expression
single molecule
duchenne muscular dystrophy