Cargando…
Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea
BACKGROUND: The switch/sucrose nonfermenting (SWI/SNF) complex is an adenosine triphosphate-dependent chromatin-remodeling complex associated with the regulation of DNA accessibility. Germline mutations in the components of the SWI/SNF complex are related to human developmental disorders, including...
Autores principales: | Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Keum, Changwon, Kim, Yoo-Mi, Do, Hyo-Sang, Choi, Jeongmin, Choi, In Hee, Yoo, Han-Wook, Lee, Beom Hee |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8555129/ https://www.ncbi.nlm.nih.gov/pubmed/34706719 http://dx.doi.org/10.1186/s12920-021-01104-9 |
Ejemplares similares
-
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
por: Choi, Yunha, et al.
Publicado: (2022) -
Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia
por: Ahn, Hyunji, et al.
Publicado: (2020) -
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease
por: Kim, Eun Na, et al.
Publicado: (2022) -
Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression
por: Kang, Eungu, et al.
Publicado: (2022) -
Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents
por: Yoon, Ji-Hee, et al.
Publicado: (2021)