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

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Authors: Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona & Miriam Schmidts

Journal title: Orphanet Journal of Rare Diseases

Journal publisher: BioMed Central

Published year: 2022

DOI identifier: 10.1186/s13023-022-02244-6

ISSN: 1750-1172