Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome

Ophthalmic Genet. 2022 Aug;43(4):573-575. doi: 10.1080/13816810.2022.2092759. Epub 2022 Jul 4.

Authors

Lijuan Huang¹, Maosheng Guo¹, Yunyu Zhou², Tianwei Liang², Ningdong Li^{1

2

3

4}

Affiliations

¹ Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
² Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
³ Key Laboratory of Major Diseases in Children, Ministry of Education, Beijing, China.
⁴ Department of Ophthalmology, Children's Hospital, Capital Institute of Pediatrics, Beijing, Chinalnd30@163.com.

PMID: 35786123
DOI: 10.1080/13816810.2022.2092759

No abstract available

Publication types

Letter

MeSH terms

Alstrom Syndrome* / diagnosis
Alstrom Syndrome* / genetics
Asian People / genetics
Cell Cycle Proteins / genetics
China / epidemiology
Humans
Mutation

Substances

ALMS1 protein, human
Cell Cycle Proteins