eP092: Germline mosaicism in severe BICD2-associated lower extremity-predominant spinal muscular atrophy type 2 with arthrogryposis multiplex congenita

Autor: Cassady, Jennifer, Subramaniam, Akila, Bowling, Kevin, Hurst, Anna
Zdroj: In Genetics in Medicine March 2022 24(3) Supplement:S60-S61
Databáze: ScienceDirect