Publications:

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report.

European Heart Journal. Case Reports

Suliman, Asem A; Yan, Weiang W; Yamashita, Michael H MH; Krentz, Anthony D AD; Mhanni, Aizeddin A; Garber, Philip J PJ

Publication Date: 2022-03

Variant appearance in text: FBN1: Cys2339Gly

PubMed Link: 35372756

Variant Present in the following documents:

• Main text
• ytac063.pdf

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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 7015T>G; Cys2339Gly

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

View BVdb publication page