Result: Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

*Title*:

*Author/editor-in-chief*:

*Publication*:

Freiburg : Universität, 2023

*Physical description scale*:

1 Online-Ressource

*Format*:

*eBook*

*Language*:

*eng*

*Notes*:

Journal of medical genetics. - 60, 1 (2023) , 48-56, ISSN: 1468-6244

*DOI*:

10.1136/jmedgenet-2021-108064

*Result*: Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex