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Diagnosing Skeletal Dysplasia: A Retrospective Assessment of the Diagnostic Utility of Next Generation Sequencing

CAGC 2021: Canadian Association of Genetic Counsellors
Virtual Meeting, Sep 29-Oct 2, 2021

Diagnosing Skeletal Dysplasia: A Retrospective Assessment of the Diagnostic Utility of Next Generation Sequencing 

Authors: Scocchia A, Kangas-Kontio T, Pelttari L, Gall K,Saarinen I,  Sistonen J, Koskenvuo J, Alastalo T-P

Specialties: Genetics

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Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

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