Coffin-Siris syndrome and cancer susceptibility

Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor suppressors, the cancer risk in patients with CSS remains uncle...

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Bibliographic Details
Main Authors: Nicholas A. Borja, Samantha A. Schrier Vergano, Mustafa Tekin
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008270