Bardet Biedl Syndrome
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High Quality Content by WIKIPEDIA articles! The Bardet-3Biedl syndrome is a ciliopathic human genetic disorder that produces many effects and affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. "Bardet-Biedl syndrome is a pleiotropic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. The main clinical features are rod-cone dystrophy, with childhood-onset visual loss preceded by night blindness; postaxial polydactyly; truncal obesity that manifests during infancy and remains problematic throughout adulthood; specific learning difficulties; male hypogenitalism and complex female genitourinary malformations; and renal dysfunction, a major cause of morbidity and mortality.
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GarantieWeitere Informationen
- Allgemeine Informationen
- GTIN 09786131628412
- Editor Frederic P. Miller, Agnes F. Vandome, John McBrewster
- EAN 9786131628412
- Format Fachbuch
- Titel Bardet Biedl Syndrome
- Herausgeber Alphascript Publishing
- Anzahl Seiten 108
- Genre Biologie
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