Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients

Alström syndrome (ALMS) is a rare inherited metabolic disease and ciliopathy. Large cohorts of ALMS are lacking around the world. Detailed genetic and phenotypic data were obtained from all affected individuals. Olfactory function was evaluated by the Chinese Smell Identification Test and facial pat...

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Detalles Bibliográficos
Autores principales: Zhang, Qianwen, Ding, Yu, Feng, Biyun, Tang, Yijun, Chen, Yao, Wang, Yirou, Chang, Guoying, Liu, Shijian, Wang, Jian, Li, Qian, Fu, Lijun, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861322/
https://www.ncbi.nlm.nih.gov/pubmed/35211159
http://dx.doi.org/10.3389/fgene.2022.808919

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861322/
https://www.ncbi.nlm.nih.gov/pubmed/35211159
http://dx.doi.org/10.3389/fgene.2022.808919

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