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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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