A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review

BACKGROUND: Shashi-Pena syndrome (SHAPNS) is a developmental disorder caused by mutations in additional sex combs-like Protein 2 (ASXL2). Since 2016, only 12 cases from 10 families have been reported. However, neonatal period characteristics remain largely unknown. Herein, we report a case with a pa...

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Detalles Bibliográficos
Autores principales: Yuan, Meng, Shan, Yuanyuan, Xu, Fanshu, Yang, Lin, Sun, Chengjun, Cheng, Ruoqian, Wu, Bingbing, Zhang, Zhehuan, Cao, Yun, Zhang, Rong, Zhou, Wenhao, Cheng, Guoqiang, Hu, Liyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9926125/
https://www.ncbi.nlm.nih.gov/pubmed/36798937
http://dx.doi.org/10.21037/tp-22-220

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