Publications:

Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families.

Frontiers In Medicine

Li, Dandan D; Qiao, Jun J; Huang, Dandan D; Guo, Ruru R; Ji, Jian J; Liu, Wei W

Publication Date: 2022

Variant appearance in text: FBN1: 2168A>T; Asp723Val

PubMed Link: 36582279

Variant Present in the following documents:

• Main text
• fmed-09-1086844.pdf

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The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Human Mutation

Hilhorst-Hofstee, Yvonne Y; Rijlaarsdam, Marry E B ME; Scholte, Arthur J H A AJ; Swart-van den Berg, Marietta M; Versteegh, Michel I M MI; van der Schoot-van Velzen, Iris I; Schäbitz, Hans-Joachim HJ; Bijlsma, Emilia K EK; Baars, Marieke J MJ; Kerstjens-Frederikse, Wilhelmina S WS; Giltay, Jacques C JC; Hamel, Ben C BC; Breuning, Martijn H MH; Pals, Gerard G

Publication Date: 2010-12

Variant appearance in text: FBN1: 2168A>T; Asp723Val

PubMed Link: 20886638

Variant Present in the following documents:

• Main text
• humu0031-E1915.pdf

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