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Does brittle cornea syndrome have a bone fragility phenotype?
Brittle cornea syndrome is a rare recessively inherited disorder (a sub-type of Ehlers-Danlos syndrome) with a clinical presentation dominated by corneal fragility and deafness. There have been suggestions that it may also have a bone fragility phenotype, but there has been little detailed descripti...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426531/ https://www.ncbi.nlm.nih.gov/pubmed/34522702 http://dx.doi.org/10.1016/j.bonr.2021.101124 |