Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants
Abstract This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological findings from 2016 to 2019. Patients wit...
Guardado en:
Autores principales: | Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/bb81bceacee04121baf967c5f8426009 |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging
por: Zhang T, et al.
Publicado: (2021) -
A hypomyelinating leukodystrophy in German Shepherd dogs
por: Pia R. Quitt, et al.
Publicado: (2021) -
Structure of a human intramembrane ceramidase explains enzymatic dysfunction found in leukodystrophy
por: Ieva Vasiliauskaité-Brooks, et al.
Publicado: (2018) -
Central nervous system pathology progresses independently of KC and CXCR2 in globoid-cell leukodystrophy.
por: Adarsh S Reddy, et al.
Publicado: (2014) -
PI INDEX OF SOME BENZENOID GRAPHS
por: REZA ASHRAFI,ALI, et al.
Publicado: (2006)