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CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature

BACKGROUND: Cyclin-dependent kinase inhibitor 1C (CDKN1C) is a cell proliferation inhibitor that regulates the cell cycle and cell growth through G1 cell cycle arrest. CDKN1C mutations can lead to IMAGe syndrome (CDKN1C allele gain-of-function mutations lead to intrauterine growth restriction, metap...

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Detalles Bibliográficos
Autores principales: Li, Jie, Chen, Li-Na, He, Hai-Lan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353515/
https://www.ncbi.nlm.nih.gov/pubmed/37469742
http://dx.doi.org/10.12998/wjcc.v11.i19.4655