Abstract
Bardet- biedl syndrome (BBS) is a rare heterogenous autosomal recessive disease due to defects in primary cilia which until now, up to 21 types have been detected. A few reports of BBS in Iran have been published but this is the first type 9 genotyped and clinically discussed case. This type can cause severe and delayed onset renal failure.
MeSH terms
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Bardet-Biedl Syndrome / complications
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Bardet-Biedl Syndrome / diagnosis*
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Bardet-Biedl Syndrome / genetics*
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Cilia / pathology
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Cytoskeletal Proteins / genetics*
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Fingers / abnormalities
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Fingers / diagnostic imaging
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Genotype
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Humans
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Hyperparathyroidism / etiology
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Hypogonadism / etiology
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Iran
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Kidney / abnormalities
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Male
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Middle Aged
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Mutation*
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Polydactyly / etiology
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Uremia / etiology
Substances
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BBS9 protein, human
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Cytoskeletal Proteins