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Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive disorder of the cilia, often resulting in a phenotype of obesity, rod-cone dystrophy, a variable degree of intellectual disability, polydactyly, renal problems, and/or hypogonadism in males or genital abnormalities in females. We here report...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7316806/ https://ncbi.nlm.nih.gov/pubmed/32144365 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0594-z |
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