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- W1640562251 abstract "Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. The clinical diagnosis of syndrome X defines a patient with abnormal glucose metabolism, hypertension, hyperlipidemia and obesity. We report here a 15 year-old girl with BBS presenting with syndrome X." @default.
- W1640562251 created "2016-06-24" @default.
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- W1640562251 date "2004-01-01" @default.
- W1640562251 modified "2023-10-18" @default.
- W1640562251 title "Bardet-Biedl Syndrome with Syndrome X: A Patient Report" @default.
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- W1640562251 doi "https://doi.org/10.1515/jpem.2004.17.6.914" @default.
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