New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome

PURPOSE: Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS. Herein, we used whole-exome sequencing (WES) to determine the...

Descripción completa

Detalles Bibliográficos
Autores principales: Cheng, Wan-Yu, Ma, Mei-Jiao, Yuan, Shi-Qin, Qi, Xiao-long, Rong, Wei-Ning, Sheng, Xun-Lun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511775/
https://www.ncbi.nlm.nih.gov/pubmed/36162988
http://dx.doi.org/10.1186/s12886-022-02597-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511775/
https://www.ncbi.nlm.nih.gov/pubmed/36162988
http://dx.doi.org/10.1186/s12886-022-02597-3

Ejemplares similares