Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndro...
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
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Publisher
England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Bardet-Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. So far, 20 BBS genes have been identified, with the last reported ones being found in one or very few families. Whole-exome sequencing...
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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome
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TN_cdi_hal_primary_oai_HAL_hal_03680476v1
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03680476v1
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2015.162
