PHIP variants associated with Chung–Jansen syndrome disrupt replication fork stability and genome integrity

Chung–Jansen syndrome (CJS) is a rare, autosomal dominant disorder characterized by developmental delay, intellectual disability/cognitive impairment, behavioral challenges, obesity, and dysmorphic features. CJS is associated with heterozygous variants in PHIP (Pleckstrin-Homology Interacting Protei...

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Detalles Bibliográficos
Autores principales: Tirado-Class, Neysha, Hathaway, Caitlin, Chung, Wendy K., Dungrawala, Huzefa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528965/
https://www.ncbi.nlm.nih.gov/pubmed/35863899
http://dx.doi.org/10.1101/mcs.a006212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9528965/
https://www.ncbi.nlm.nih.gov/pubmed/35863899
http://dx.doi.org/10.1101/mcs.a006212

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