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

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

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

Autor(en):

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

Erschienen in:

Orphanet Journal of Rare Diseases (2022), Bd. 17 (1), Article 97

Verlagsangabe:

Bmc

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1186/s13023-022-02244-6

ISSN:

1750-1172