B9d1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

Katharina Hopp, Christina M. Heyer, Cynthia J. Hommerding, Susan A. Henke, Jamie L. Sundsbak, Shail Patel, Priyanka Patel, Mark B. Consugar, Peter G. Czarnecki, Troy J. Gliem, Vicente E. Torres, Sandro Rossetti, Peter C. Harris

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