Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG, Daftarian N, Murphy D, Doosti M, Moghaddasi A, Ahmadieh H, Sabbaghi H, Rajati M, Hashemi N, Vona B, Schmidts M.
Rad A, et al. Among authors: moghaddasi a.
Orphanet J Rare Dis. 2022 Mar 3;17(1):97. doi: 10.1186/s13023-022-02244-6.
Orphanet J Rare Dis. 2022.
PMID: 35241111
Free PMC article.