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Bardet–Biedl syndrome: a case series
BACKGROUND: Bardet–Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod–cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that...
Autores principales: | Elawad, Omer Ali Mohamed Ahmed, Dafallah, Mumen Abdalazim, Ahmed, Mohammed Mahgoub Mirghani, Albashir, Ahmed Abdalazim Dafallah, Abdalla, Sahar Mohammed Abbas, Yousif, Habiballa Hago Mohamed, Daw Elbait, Anwar Ali Elamin, Mohammed, Moawia Elbalal, Ali, Hassan Ismail Hassan, Ahmed, Mohamed Mutasim Mohamed, Mohammed, Najla Fouad Nassir, Osman, Fadwa Hashim Mohamed, Mohammed, Mussab Alnazeer Yousif, Abu Shama, Ejlal Ahmed Ebrahim |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9052695/ https://www.ncbi.nlm.nih.gov/pubmed/35484558 http://dx.doi.org/10.1186/s13256-022-03396-6 |
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