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Infant Alstrom syndrome diagnosed by a new gene mutation: a case report.
Ye Y, Wang X, Li G, Xiao X, Ji X. Ye Y, et al. Among authors: li g. J Int Med Res. 2023 Jul;51(7):3000605231184100. doi: 10.1177/03000605231184100. J Int Med Res. 2023. PMID: 37439038 Free PMC article.
Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. ...A novel ALMS1 mutation was identified in this case report, highlighting the importance of genetic testing for the early diagnosis of Alstrom syndrome....
Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. ...A novel ALMS1 mutation was identifi
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with Alstrom syndrome].
Bai Z, Li G, Wu Q, Kong X. Bai Z, et al. Among authors: li g. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Sep 10;40(9):1124-1127. doi: 10.3760/cma.j.cn511374-20211004-00798. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37643959 Chinese.
OBJECTIVE: To explore the clinical characteristics and genetic etiology of a Chinese pedigree affected with Alstrom syndrome. METHODS: A pedigree with 5 members affected with Alstrom syndrome who had visited the First Affiliated Hospital of Zhengzhou University in F …
OBJECTIVE: To explore the clinical characteristics and genetic etiology of a Chinese pedigree affected with Alstrom syndrome. METHODS …
A role for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence.
Li G, Vega R, Nelms K, Gekakis N, Goodnow C, McNamara P, Wu H, Hong NA, Glynne R. Li G, et al. PLoS Genet. 2007 Jan 5;3(1):e8. doi: 10.1371/journal.pgen.0030008. Epub 2006 Nov 30. PLoS Genet. 2007. PMID: 17206865 Free PMC article.
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alstrom syndrome. Alstrom syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of the primary ci …
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alstrom syndrome. Alstrom syndrome is a rare diso …