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SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review

BACKGROUND: Special AT-rich sequence binding protein 2 (SATB2)-associated syndrome (SAS; OMIM 612313) is an autosomal dominant disorder. Alterations in the SATB2 gene have been identified as causative. CASE SUMMARY: We report a case of a 13-year-old Chinese boy with lifelong global developmental del...

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Detalles Bibliográficos
Autores principales: Zhu, Yan-Yan, Sun, Gui-Lian, Yang, Zhi-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8316932/
https://www.ncbi.nlm.nih.gov/pubmed/34368330
http://dx.doi.org/10.12998/wjcc.v9.i21.6081