Alstrom syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
14Phenotype mentions
14Publications
13Associated gene records
9Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publicationsAssociated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 4 | 4 |
| Saudi Arabia | — | 2 | 2 |
| Saudi Arabia · Riyadh | — | 1 | 1 |
| Saudi Arabia · Hail | Cohort 1 | 1 | 1 |
| Saudi Arabia | Cohort 100 | 1 | 1 |
| Saudi Arabia | Cohort 5 | 1 | 1 |
Supporting publications
14 records- 2024Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.Molecular genetics & genomic medicine1 mentions
- 2024Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss.Cureus1 mentions
- 2023Alström Syndrome: A Rare Cause of Severe Insulin Resistance.JCEM case reports1 mentions
- 2023Unique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society1 mentions
- 2021Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.Frontiers in pediatrics1 mentions
- 2020Whole exome sequencing identifies rare biallelic ALMS1 missense and stop gain mutations in familial Alström syndrome patients.Saudi journal of biological sciences1 mentions
- 2017Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.Medicine1 mentions
- 2017Erratum: Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes: Erratum.Medicine1 mentions
- 2016Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.Middle East African journal of ophthalmology1 mentions
- 2016Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.Human genomics1 mentions
- 2015Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.Ophthalmology1 mentions
- 2010Combined occurrence of diabetes mellitus and retinitis pigmentosa.Annals of Saudi medicine1 mentions
- 2009Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.American journal of medical genetics. Part A1 mentions
- 2006Alstrom syndrome in four sibs from northern Jordan.Annals of Saudi medicine1 mentions