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

BACKGROUND: Spondylocostal 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...

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Detalles Bibliográficos
Autores principales: Lv, Shaoguang, Wu, Yuanyuan, Liu, Fang, Jiao, Baoquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485611/
https://www.ncbi.nlm.nih.gov/pubmed/37691774
http://dx.doi.org/10.3389/fped.2023.1201999

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485611/
https://www.ncbi.nlm.nih.gov/pubmed/37691774
http://dx.doi.org/10.3389/fped.2023.1201999

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