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

Title of conference presentation

NSGC 2021: National Society of Genetic Counselors Annual Conference
Virtual Meeting, Sep 22-26, 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, Neurology