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ALLMedicine™ Bardet-biedl Syndrome 2 Center

Research & Reviews  2 results

Refining genotype-phenotype correlation in Alström syndrome through study of primary hu...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511801
Molecular Genetics & Genomic Medicine; Chen JH, Geberhiwot T et. al.

Jul 19th, 2017 - Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested w...

Bardet-Biedl syndrome 2
https://rarediseases.info.nih.gov/diseases/821/bardet-biedl-syndrome-2

Apr 17th, 2017 - If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals...

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