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About 5 results

ALLMedicine™ Bardet-biedl Syndrome 1 Center

Research & Reviews  2 results

BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
https://doi.org/10.1136/jmedgenet-2020-107626
Journal of Medical Genetics; Fadaie Z, Whelan L et. al.

Apr 30th, 2021 - Inherited retinal diseases (IRDs) can be caused by variants in >270 genes. The Bardet-Biedl syndrome 1 (BBS1) gene is one of these genes and may be associated with syndromic and non-syndromic autosomal recessive retinitis pigmentosa (RP). Here, we...

Bardet-Biedl syndrome 1
https://rarediseases.info.nih.gov/diseases/820/bardet-biedl-syndrome-1

Aug 27th, 2018 - Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased func...

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