Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2

Autor: Kloth, Katja, Neu, Axel, Rau, Isabella, Hülsemann, Wiebke, Kutsche, Kerstin, Volk, Alexander E.
Zdroj: In European Journal of Medical Genetics March 2021 64(3)
Databáze: ScienceDirect