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

Abolfazl Rad(Sabzevar University of Medical Sciences), Miriam Schmidts(University of Freiburg), Narges Hashemi(Mashhad University of Medical Sciences), Narsis Daftarian(Shahid Beheshti University of Medical Sciences), Mohsen Rajati(Mashhad University of Medical Sciences), Stephen Loum(University of Tübingen), Mohammad Doosti, Barbara Vona(Brigham and Women's Hospital), David Murphy(National Hospital for Neurology and Neurosurgery), Afrooz Moghaddasi(Shahid Beheshti University of Medical Sciences), Fatemeh Suri(Shahid Beheshti University of Medical Sciences), Ehsan Ghayoor Karimiani(St George's, University of London), Hamideh Sabbaghi(Shahid Beheshti University of Medical Sciences), Hamid Ahmadieh(Hospital Labbafinejad), Maryam Najafi(Radboud University Nijmegen), Soheila Abedini(Mashhad University of Medical Sciences)
Orphanet Journal of Rare Diseases
March 3, 2022
Cited by 8


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