Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis
Abstract Background Bardet-Biedl syndrome (BBS) is a rare multisystemic autosomal recessive (AR) disorder, which falls under the spectrum of ciliopathic disorders. As BBS is a very rare entity in India, its diagnosis is most often missed during early child visits. The lack of a syndromic approach fo...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
SpringerOpen,
2023-10-01T00:00:00Z.
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