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Abnormal Cystatin C Levels in Two Patients with Bardet-Biedl Syndrome
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-14. In the Western countries, the prevalence of this d...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Libertas Academica
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096431/ https://www.ncbi.nlm.nih.gov/pubmed/21769262 http://dx.doi.org/10.4137/CCRep.S6622 |