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

DSpace Repository

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

Author: 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
Tübinger Autor(en):
Rad, Aboulfazl
Loum, Stephen
Vona, Barbara
Published in: Orphanet Journal of Rare Diseases (2022), Bd. 17 (1), Article 97
Verlagsangabe: Bmc
Language: English
Full text: http://dx.doi.org/10.1186/s13023-022-02244-6
ISSN: 1750-1172
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
Show full item record

This item appears in the following Collection(s)