A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.
Hum Genome Var
; 8(1): 24, 2021 Jun 18.
Article
en En
| MEDLINE
| ID: mdl-34145223
Lessel et al. reported a novel neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) in 12 individuals and identified six different de novo heterozygous missense variants in DHX30. The other clinical features included muscular hypotonia, feeding difficulties, brain anomalies, autistic features, sleep disturbances, and joint hypermobility. We report a Japanese adult with a novel missense variant and two girls with de novo missense variants in DHX30.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Año:
2021
Tipo del documento:
Article
País de afiliación:
Japón
Pais de publicación:
Reino Unido