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Structural heart defects associated with ET(B) mutation, a cause of Hirschsprung disease

BACKGROUND: HSCR, a colonic neurocristopathy affecting 1/5000 births, is suggested to associate with cardiac septal defects and conotruncal malformations. However, we question subtle cardiac changes maybe more commonly present due to multi-regulations by HSCR candidate genes, in this instance, ET(B)...

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Detalles Bibliográficos
Autores principales: Chen, Ko-Chin, Chen, Ko-Chien, Song, Zan-Min, Croaker, Geoffrey D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8487587/
https://www.ncbi.nlm.nih.gov/pubmed/34600481
http://dx.doi.org/10.1186/s12872-021-02281-2

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