Underrepresentation of phenotypic variability of 16p13.11 microduplication syndrome assessed with an online self-phenotyping tool (Phenotypr): Cohort study

Jianqiao Li, Margaret A. Hojlo, Sampath Chennuri, Nitin Gujral, Heather L. Paterson, Kent A. Shefchek, Casie A. Genetti, Emily L. Cohn, Kara C. Sewalk, Emily A. Garvey, Elizabeth D. Buttermore, Nickesha C. Anderson, Alan H. Beggs, Pankaj B. Agrawal, John S. Brownstein, Melissa A. Haendel, Ingrid A. Holm, Joseph Gonzalez-Heydrich, Catherine A. Brownstein

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Medicine & Life Sciences