Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome

OBJECTIVE: Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hyp...

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Detalles Bibliográficos
Autores principales: Wang, Chunmei, Luo, Xiaona, Wang, Yilin, Liu, Zhao, Wu, Shengnan, Wang, Simei, Lan, Xiaoping, Xu, Quanmei, Xu, Wuhen, Yuan, Fang, Wang, Anqi, Zeng, Fanyi, Jia, Jia, Chen, Yucai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710367/
https://www.ncbi.nlm.nih.gov/pubmed/34148947
http://dx.doi.org/10.2169/internalmedicine.6467-20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8710367/
https://www.ncbi.nlm.nih.gov/pubmed/34148947
http://dx.doi.org/10.2169/internalmedicine.6467-20

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