A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

BACKGROUND: Mowat-Wilson syndrome (MWS) is a genetic condition characterized by distinctive facial features, moderate to severe intellectual disability, developmental delay and multiple congenital anomalies. MWS is caused by heterozygous mutations or deletions of the ZEB2 gene located on chromosome...

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Detalles Bibliográficos
Autores principales: Yuan, Haiming, Zhang, Lina, Chen, Mengfan, Zhu, Junping, Meng, Zhe, Liang, Liyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690300/
https://www.ncbi.nlm.nih.gov/pubmed/26705424
http://dx.doi.org/10.1186/s13039-015-0206-8

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