Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nádia F. Simões de Souza, Morris A. Swertz, Mirjam Plantinga, Wilhelmina S. Kerstjens‐Frederikse, Adelita V. Ranchor, Conny M.A. van Ravenswaaij‐Arts
This study compares parent-reported phenotype data on chromosome 6 disorders to medical file data and literature, finding high consistency and greater data availability through parent reports.
medRxiv · Nov 7, 2022 · PreprintGenetic & Genomic Medicine