Associated Papers
Clinical phenotypes of individuals with Chung-Jansen syndrome across age groups.
Sudnawa KK et al.
American Journal of Medical Genetics. Part A, 2024
PHIP variants associated with Chung-Jansen syndrome disrupt replication fork stability and genome integrity.
Tirado-Class N et al.
Cold Spring Harbor Molecular Case Studies, 2022
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
34690354 (PubMed )
Supplement: 41431_2021_981_MOESM3_ESM.xlsx › variants
PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.
Kampmeier A et al.
Frontiers in Cell and Developmental Biology, 2022
Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.
Craddock KE et al.
Cold Spring Harbor Molecular Case Studies, 2019
Chung-Jansen Syndrome with obesity.
Kaur H et al.
Obesity Research & Clinical Practice, 0
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