Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study

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...

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Publicat a:J Med Internet Res
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: JMIR Publications 2021
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Original Paper
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8074853/
https://ncbi.nlm.nih.gov/pubmed/33724192
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2196/21023
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