P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome

Autor: Catena, Sofia, Gonzalez, Joanna, Maddy, Krisna, Rodier, Matthew, Borja, Nicholas
Zdroj: In Genetics in Medicine Open 2024 2 Supplement 1
Databáze: ScienceDirect