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White-Sutton syndrome and congenital heart disease: case report and literature review

BACKGROUND: White-Sutton syndrome is an autosomal dominant neurodevelopmental disorder caused by heterozygous mutation in POGZ (Pogo Transposable Element Derived with ZNF Domain). This syndrome is characterized by delayed psychomotor development apparent in infancy and abnormal facial features. To d...

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Detalles Bibliográficos
Autores principales: Duan, Jing, Ye, Yuanzhen, Liao, Jianxiang, Chen, Li, Zhao, Xia, Liu, Chao, Wen, Jialun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10071667/
https://www.ncbi.nlm.nih.gov/pubmed/37016333
http://dx.doi.org/10.1186/s12887-023-03972-9