SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review

SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review

ObjectiveOur objective was to examine the clinical and genetic features of Coffin-Siris syndrome resulting from a pathogenic variant in the SMARCA4 gene.MethodsThe clinical data and molecular genetic test results of a newbron with Coffin-Siris syndrome involving a pathogenic variant in the SMARCA4 g...

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Bibliographic Details
Main Authors: Yuqian Wang, Li Zhang, Jing Zhu, Liu Yang, Chan Wang, Ning Zou
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Pediatrics
Subjects:
Coffin-Siris syndrome
SMARCA4
genetic abnormality
whole-exome sequencing
otorhinolaryngologic malformations
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2024.1493380/full
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