Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known ...
International audienceBardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving fie...
<div><p>Bardet-Biedl syndrome (BBS) and nephronophthisis (NPH) are hereditary autosomal recessive di...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have ...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progress...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progress...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder, the primary features of which i...
Bardet–Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significan...
Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by ob...
Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotropic phe...
<div><p>Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotr...
The multiple genetic approaches available for molecular diagnosis of human diseases have made possib...
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known ...
International audienceBardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving fie...
<div><p>Bardet-Biedl syndrome (BBS) and nephronophthisis (NPH) are hereditary autosomal recessive di...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have ...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progress...
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive ciliopathy characterized by progress...
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder, the primary features of which i...
Bardet–Biedl syndrome (BBS) is a rare pleiotropic disorder known as a ciliopathy. Despite significan...
Bardet-Biedl syndrome (BBS) is a pleiotropic, genetically heterogeneous disorder characterized by ob...
Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotropic phe...
<div><p>Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotr...
The multiple genetic approaches available for molecular diagnosis of human diseases have made possib...
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy disorder with 18 known ...
International audienceBardet-Biedl syndrome (BBS), an emblematic disease in the rapidly evolving fie...
<div><p>Bardet-Biedl syndrome (BBS) and nephronophthisis (NPH) are hereditary autosomal recessive di...