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Bardet–Biedl Syndrome in an Ethiopian
Bardet–Biedl syndrome (BBS) is a rare familial and multi-system disorder with an autosomal recessive pattern of inheritance and wide range of clinical variability. Its main manifestations are progressive retinal dystrophy, renal dysfunction, post-axial polydactyly, central obesity, mental retardatio...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989368/ https://www.ncbi.nlm.nih.gov/pubmed/33776488 http://dx.doi.org/10.2147/IMCRJ.S299421 |