ArticleFrontiers in genetics2022
Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Alström syndrome in a Chinese girl: a case report and literature review.Translational pediatrics · 2026Article
- Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features.Orphanet journal of rare diseases · 2025Article
- Obesity-Related Ciliopathies: Focus on Advances of Biomarkers.International journal of molecular sciences · 2024Review
- Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.Scientific reports · 2024Article
- Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.Endocrine connections · 2023Article
- Genotypic and phenotypic features of dyslipidemia in a sample of pediatric patients in China.BMC pediatrics · 2023Article
- AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.Frontiers in pediatrics · 2023Article
- Olfactory function changes and the predictive performance of the Chinese Smell Identification Test in patients with mild cognitive impairment and Alzheimer's disease.Frontiers in aging neuroscience · 2023Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 pattern was analyzed with Face2gene. Fifty ALMS patients were included in this study, aged from 0.3 to 21.7 years old. Sixty-one
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Registered trials
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