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Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study

2 Aug 2022

Abstract excerpt

BACKGROUND: Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic biotechnologies (e.g., next-generation sequencing panels) facilitating the discovery of novel variants causing disease. METHODS: Detailed clinical exam data and CLIA-approved genetic testing results from next generation sequencing of 74 genes known to play a role in HCTDs were...

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Celiac Disease Research and Management
Connective tissue disorders research
Genetic Associations and Epidemiology

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35918752
DOI: 10.1186/s12920-022-01321-w

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