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De novo disruptive heterozygous MMP21 variants are potential predisposing genetic risk factors in Chinese Han heterotaxy children

BACKGROUND: Heterotaxy syndrome (HTX) is caused by aberrant left–right patterning early in embryonic development, which results in abnormal positioning and morphology of the thoracic and abdominal organs. Currently, genetic testing discerns the underlying genetic cause in less than 20% of sporadic H...

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Detalles Bibliográficos
Autores principales:	Qin, Xi-ji, Xu, Meng-meng, Ye, Jia-jun, Niu, Yi-wei, Wu, Yu-rong, Xu, Rang, Li, Fen, Fu, Qi-hua, Chen, Sun, Sun, Kun, Xu, Yue-juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484203/ https://www.ncbi.nlm.nih.gov/pubmed/36123719 http://dx.doi.org/10.1186/s40246-022-00409-9

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