De novo SOX11 mutations cause Coffin–Siris syndrome
De novo SOX11 mutations cause Coffin–Siris syndrome
About this item
Full title
Author / Creator
Tsurusaki, Yoshinori , Koshimizu, Eriko , Ohashi, Hirofumi , Phadke, Shubha , Kou, Ikuyo , Shiina, Masaaki , Suzuki, Toshifumi , Okamoto, Nobuhiko , Imamura, Shintaro , Yamashita, Michiaki , Watanabe, Satoshi , Yoshiura, Koh-ichiro , Kodera, Hirofumi , Miyatake, Satoko , Nakashima, Mitsuko , Saitsu, Hirotomo , Ogata, Kazuhiro , Ikegawa, Shiro , Miyake, Noriko and Matsumoto, Naomichi
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Coffin–Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-ex...
Alternative Titles
Full title
De novo SOX11 mutations cause Coffin–Siris syndrome
Authors, Artists and Contributors
Author / Creator
Koshimizu, Eriko
Ohashi, Hirofumi
Phadke, Shubha
Kou, Ikuyo
Shiina, Masaaki
Suzuki, Toshifumi
Okamoto, Nobuhiko
Imamura, Shintaro
Yamashita, Michiaki
Watanabe, Satoshi
Yoshiura, Koh-ichiro
Kodera, Hirofumi
Miyatake, Satoko
Nakashima, Mitsuko
Saitsu, Hirotomo
Ogata, Kazuhiro
Ikegawa, Shiro
Miyake, Noriko
Matsumoto, Naomichi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1532481115
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1532481115
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/ncomms5011
