Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, dysmorphism, and musculoskeletal abnormalities (2101)
Sie können Bookmarks mittels Listen verwalten, loggen Sie sich dafür bitte in Ihr SLUB Benutzerkonto ein.
Medientyp:
E-Artikel
Titel:
Multilocus pathogenic variation in ZC4H2, MUSK, CAPN3, and NAV2 results in a blended phenotype of severe neurodevelopmental disorder with epilepsy, brain malformation, hypotonia, dysmorphism, and musculoskeletal abnormalities (2101)