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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

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