Publications:

Updated genetic studies of Marfan syndrome in China.

Intractable & Rare Diseases Research

Sun, Yuxin Y; Zhou, Di D; Wang, Shouhua S; Ding, Jun J; Ma, Fei F

Publication Date: 2021-11

Variant appearance in text: FBN1: 3833G>A; Cys1278Tyr

PubMed Link: 34877242

Variant Present in the following documents:

• Main text

View BVdb publication page

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Molecular Genetics & Genomic Medicine

Bitarafan, Fatemeh F; Razmara, Ehsan E; Khodaeian, Mehrnoosh M; Keramatipour, Mohammad M; Kalhor, Alireza A; Jafarinia, Ehsan E; Garshasbi, Masoud M

Publication Date: 2020-08

Variant appearance in text: FBN1: 3833G>A; Cys1278Tyr

PubMed Link: 32431097

Variant Present in the following documents:

• Main text
• MGG3-8-e1274.pdf

View BVdb publication page