The Bardet-Biedl syndrome is an autosomal recessive disorder of polydactyly, obesity, tapetoretinal degeneration, mental retardation, hypogenitalism, and renal involvement. A high incidence of congenital and acquired heart disease was reported in the former "Laurence-Moon-Biedl-Bardet" syndrome. How
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Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome
β Scribed by Croft, Janet B. ;Morrell, Daphne ;Chase, Charles L. ;Swift, Michael
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 412 KB
- Volume
- 55
- Category
- Article
- ISSN
- 0148-7299
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## Abstract Congenital cardiac defects such as peripheral pulmonary stenosis are well described in Alagille syndrome (AGS), which is transmitted in an autosomal dominant inheritance. Haploinsufficiency of the Jagged1 (__JAG1__) gene has been shown to cause AGS. Abdominal coarctation is an uncommon