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Bardet–Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
Bardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by retinitis pigmentosa (RP), truncal obesity, cognitive impairment, hypogonadism in men, polydactyly, and renal abnormalities with severe renal dysfunction. Twenty-two causative genes have already been reported for t...
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| Publicado no: | CEN Case Rep |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Singapore
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7320120/ https://ncbi.nlm.nih.gov/pubmed/32253632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00472-y |
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