Article

Genotype–Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes

2025-07-08

Abstract excerpt

<h4>Background: </h4> Osteodysplastic syndromes compose a very diverse group of clinically and genetically heterogeneous disorders characterized by defects in bone and connective tissue development, as well as in bone density. Here, we report the case of a 48-year-old female with a complex medical history characterized by bone dysplasia, hyperostosis, and partial tooth agenesis. <h4>Methods:</h4> Genetic testing w...

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Literature Corpus work: 0de1128c-ad42-5a45-9006-f611d22a8d4a
DOI: 10.20944/preprints202507.0655.v1

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