Article
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
Journal of medical Internet research - 16 Mar 2021
Li Jianqiao, Hojlo Margaret A, Chennuri Sampath, Gujral Nitin, Paterson Heather L, Shefchek Kent A, Genetti Casie A, Cohn Emily L, Sewalk Kara C, Garvey Emily A, Buttermore Elizabeth D, Anderson Nickesha C, Beggs Alan H, Agrawal Pankaj B, Brownstein John S, Haendel Melissa A, Holm Ingrid A, Gonzalez-Heydrich Joseph, Brownstein Catherine A
Abstract excerpt
BACKGROUND: 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use a patient "self-phenotyping" survey to collect data directly from patients to further...
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