Article

Epidemiology and Phenotypic Characteristics of Dual Molecular Diagnosis Cases in Skeletal Abnormality

2021-07-30

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Skeletal abnormality is a heterogeneous group of disorders that affects the composition and structure of bone and cartilage. In our previous studies, we have revealed that a substantial proportion of cases with early-onset scoliosis could be explained by monogenic disorders such as Marfan syndrome and Ehlers-Danlos syndrome. More recently complex phenotypes cause...

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Literature Corpus work: c551cb6e-c250-5689-858b-5ea570e2c935
DOI: 10.21203/rs.3.rs-717820/v1

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