Publications:

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

Molecular Genetics & Genomic Medicine

Overwater, Eline E; Efrat, Rifka R; Barge-Schaapveld, Daniela Q C M DQCM; Lakeman, Phillis P; Weiss, Marjan M MM; Maugeri, Alessandra A; van Tintelen, J Peter JP; Houweling, Arjan C AC

Publication Date: 2019-02

Variant appearance in text: FBN1: 7454A>T; Asp2485Val

PubMed Link: 30485715

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page

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: 7454A>T; Asp2485Val

PubMed Link: 20886638

Variant Present in the following documents:

• Main text
• humu0031-E1915.pdf

View BVdb publication page