Article
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Orphanet journal of rare diseases - 3 Mar 2022
Rad Aboulfazl, Najafi Maryam, Suri Fatemeh, Abedini Soheila, Loum Stephen, Karimiani Ehsan Ghayoor, Daftarian Narsis, Murphy David, Doosti Mohammad, Moghaddasi Afrooz, Ahmadieh Hamid, Sabbaghi Hamideh, Rajati Mohsen, Hashemi Narges, Vona Barbara, Schmidts Miriam
Abstract excerpt
BACKGROUND: Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ultra-rare with only four families with biallelic COL9A3 variants reported to date. RESULTS: Here, we report three unrelated families clinically diagnosed with...
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