A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report

A novel homozygous HES7 splicing variant causing spondylocostal dysostosis 4: a case report

BackgroundSpondylocostal dysostosis 4 (SCDO4) is characterized by short stature (mainly short trunk), dyspnea, brain meningocele, and spina bifida occulta, which is caused by homozygous or compound heterozygous HES7 (HES family bHLH transcription factor 7) variants. The incidence of SCDO4 remains un...

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Bibliographic Details
Main Authors: Shaoguang Lv, Yuanyuan Wu, Fang Liu, Baoquan Jiao
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Pediatrics
Subjects:
spondylocostal dysostosis 4 (SCDO4)
HES7 gene
alternative splicing mutation
minigene analysis
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1201999/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1201999/full

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