Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental delay

Craniosynostosis is a premature fusion of cranial sutures, resulting in abnormally shaped skull and brain development disorder. The description of craniosynostosis in patients with BCL11B mutations is rare. Here, we firstly report a 25-month-old Chinese boy with a novel frameshift variant in BCL11B...

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Detalles Bibliográficos
Autores principales: Zhao, Xuemei, Wu, Bingbing, Chen, Huiyao, Zhang, Ping, Qian, Yanyan, Peng, Xiaomin, Dong, Xinran, Wang, Yaqiong, Li, Gang, Dong, Chenbin, Wang, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582536/
https://www.ncbi.nlm.nih.gov/pubmed/36275064
http://dx.doi.org/10.3389/fped.2022.982361

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9582536/
https://www.ncbi.nlm.nih.gov/pubmed/36275064
http://dx.doi.org/10.3389/fped.2022.982361

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