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A Rare Case of Bruck Syndrome Type 2 in Siblings With Broad Phenotypic Variability
Background: Bruck syndrome is a rare autosomal recessive condition that presents with many of the symptoms of osteogenesis imperfecta. In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by arthrogryposi...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Academic Division of Ochsner Clinic Foundation
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310181/ https://www.ncbi.nlm.nih.gov/pubmed/32612477 http://dx.doi.org/10.31486/toj.18.0145 |