Associated Papers
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Vos N et al.
Human Genetics, 2024
38787418 (PubMed )
Supplement: 439_2024_2679_MOESM3_ESM.xlsx › S5_Prediction_scores
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK et al.
American Journal of Medical Genetics. Part A, 2024
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE et al.
Cold Spring Harbor Molecular Case Studies, 2019
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