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Laurence-Moon-Bardet-Biedl Syndrome: A Rare Case With a Literature Review
Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity...
Autores principales: | Kumar, Aneel, Husain, Aamir, Saleem, Amna, Khawaja, Uzzam Ahmed, Virani, Sumaira |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720918/ https://www.ncbi.nlm.nih.gov/pubmed/33304690 http://dx.doi.org/10.7759/cureus.11355 |
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