Cargando…
Alström syndrome with a novel mutation of ALMS1 and Graves’ hyperthyroidism: A case report and review of the literature
BACKGROUND: Alström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the associatio...
Autores principales: | Zhang, Juan-Juan, Wang, Jun-Qi, Sun, Man-Qing, Xu, De, Xiao, Yuan, Lu, Wen-Li, Dong, Zhi-Ya |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080750/ https://www.ncbi.nlm.nih.gov/pubmed/33969109 http://dx.doi.org/10.12998/wjcc.v9.i13.3200 |
Ejemplares similares
-
Novel ALMS1 mutations in Chinese patients with Alström syndrome
por: Liang, Xiaofang, et al.
Publicado: (2013) -
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome
por: Wang, Chunmei, et al.
Publicado: (2021) -
New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
por: Cheng, Wan-Yu, et al.
Publicado: (2022) -
Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients
por: Bea-Mascato, Brais, et al.
Publicado: (2021) -
A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence
por: Li, Guochun, et al.
Publicado: (2007)