Ontology type: schema:ScholarlyArticle Open Access: True
2020-09-18
AUTHORSHiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi, Atsuo Itakura, Satoru Takeda, Naomichi Matsumoto
ABSTRACTHerein, 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 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases. More... »
PAGES26
http://scigraph.springernature.com/pub.10.1038/s41439-020-00114-w
DOIhttp://dx.doi.org/10.1038/s41439-020-00114-w
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PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/33014403
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