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Prenatal diagnosis in a fetuses with a clenched hands, overlapping fingers, and clubfoot due to MED12 deficiency in three affected siblings: A case report

A fetal clenched hand with overlapping fingers is more common in aneuploidy syndrome and was not well-documented in MED12 deficiency. This study reports the clinical and genetic findings of three affected siblings from a Chinese family. The chromosome karyotype analysis diagram shows that karyotypes...

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Detalles Bibliográficos
Autores principales: Xue, Huiqin, Tang, Qiaoyin, Feng, Yu, Zhao, Chenyue, Xu, Ke, Gu, Weiyue, Xue, Zhaoyu, Li, Xinyan, Jiang, Jinsong, Lu, Hongyong, Sun, Xiayu, Wu, Jianrui, Cao, Guizhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10369338/
https://www.ncbi.nlm.nih.gov/pubmed/37501721
http://dx.doi.org/10.3389/fgene.2023.1037345