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: 7258A>C; Asn2420His

PubMed Link: 30485715

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page