Nonsense variants of STAG2 result in distinct congenital anomalies

Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a...

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Detalles Bibliográficos
Autores principales: Aoi, Hiromi, Lei, Ming, Mizuguchi, Takeshi, Nishioka, Nobuko, Goto, Tomohide, Miyama, Sahoko, Suzuki, Toshifumi, Iwama, Kazuhiro, Uchiyama, Yuri, Mitsuhashi, Satomi, Itakura, Atsuo, Takeda, Satoru, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501222/
https://www.ncbi.nlm.nih.gov/pubmed/33014403
http://dx.doi.org/10.1038/s41439-020-00114-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501222/
https://www.ncbi.nlm.nih.gov/pubmed/33014403
http://dx.doi.org/10.1038/s41439-020-00114-w

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