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Musculoskeletal Manifestations in Patients With Bardet-Biedl Syndrome: A Report of Two Cases
We report two patients with musculoskeletal manifestations as part of the Bardet-Biedl syndrome. The first patient (case 1) was born with polydactyly and later diagnosed with coxa vara. He had homozygous pathogenic mutation in the BBS1 gene of the variant c.1645G>T (p.Glu459*). The second patient...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10427120/ https://www.ncbi.nlm.nih.gov/pubmed/37588308 http://dx.doi.org/10.7759/cureus.41963 |