A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.

Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi, Lama; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A.

Genet Med ; 24(10): 2207, 2022 Oct.

Article in En | MEDLINE | ID: mdl-36205747

Full text: 1 Database: MEDLINE Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article

Full text: 1 Database: MEDLINE Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article