Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis

Conclusion Pathogenic variants in exon 10 of the ALMS1 gene were associated with a higher prevalence of liver disease. However, the location of the variant in the ALMS1 gene does not have a major impact on the phenotype developed by the patient.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access Genotype-phenotype correlations Source Type: research