Cargando…
Mutant BCL11B in a Patient With a Neurodevelopmental Disorder and T-Cell Abnormalities
Background: BCL11B encodes B-cell lymphoma/leukemia 11B, a transcription factor that participates in the differentiation and migration of neurons and lymphocyte cells. De novo mutations of BCL11B have been associated with neurodevelopmental disorder and immunodeficiency, such as immunodeficiency 49...
Autores principales: | Yang, Sai, Kang, Qingyun, Hou, Yanqi, Wang, Lili, Li, Liping, Liu, Shulei, Liao, Hongmei, Cao, Zhenhua, Yang, Liming, Xiao, Zhenghui |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7641641/ https://www.ncbi.nlm.nih.gov/pubmed/33194885 http://dx.doi.org/10.3389/fped.2020.544894 |
Ejemplares similares
-
Clinical Characteristics and Prognostic Factors of Children With Anti-N-Methyl-D-Aspartate Receptor Encephalitis
por: Yang, Sai, et al.
Publicado: (2021) -
Case Report: Compound Heterozygous Variants of SLC13A3 Identified in a Chinese Patient With Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation
por: Kang, Qingyun, et al.
Publicado: (2021) -
Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report
por: Yang, Sai, et al.
Publicado: (2020) -
Clinical Characteristics and Short-Term Prognosis of Children With Antibody-Mediated Autoimmune Encephalitis: A Single-Center Cohort Study
por: Kang, Qingyun, et al.
Publicado: (2022) -
Genetic Testing in Neurodevelopmental Disorders
por: Savatt, Juliann M., et al.
Publicado: (2021)