Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome

Autor: Maya, Idit, Kahana, Sarit, Agmon-Fishman, Ifaat, Klein, Cochava, Matar, Reut, Berger, Racheli, Shohat, Mordechai, Basel-Salmon, Lina, Sharony, Reuven, Sagi-Dain, Lena
Zdroj: In European Journal of Medical Genetics October 2020 63(10)
Databáze: ScienceDirect