Late diagnosis of Bardet-Biedl syndrome in an 18-year-old patient − a case report and literature review
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive multi-system ciliopathy. Its diagnosis is based on a constellation of characteristic clinical symptoms that appear in childhood, including kidney defects, obesity, retinal dystrophy, polydactyly, intellectual dysfunction, and hypogonadism. W...
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| Format: | Book |
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Termedia Publishing House,
2022-03-01T00:00:00Z.
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A1234.567 |
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