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...

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Detalles Bibliográficos
Autores principales: Arroyo Gonzalez, Gabriela M, Izquierdo, Natalio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
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

Internet

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

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