A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
About this item
Full title
Author / Creator
Suzuki, Toshimitsu , Suzuki, Toshifumi , Raveau, Matthieu , Miyake, Noriko , Sudo, Genki , Tsurusaki, Yoshinori , Watanabe, Takaki , Sugaya, Yuki , Tatsukawa, Tetsuya , Mazaki, Emi , Shimohata, Atsushi , Kushima, Itaru , Aleksic, Branko , Shiino, Tomoko , Toyota, Tomoko , Iwayama, Yoshimi , Nakaoka, Kentaro , Ohmori, Iori , Sasaki, Aya , Watanabe, Ken , Hirose, Shinichi , Kaneko, Sunao , Inoue, Yushi , Yoshikawa, Takeo , Ozaki, Norio , Kano, Masanobu , Shimoji, Takeyoshi , Matsumoto, Naomichi and Yamakawa, Kazuhiro
Publisher
Bognor Regis: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
Bognor Regis: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large‐scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify novel candidate genes for NDDs.
Methods
We performed exome sequencing of...
Alternative Titles
Full title
A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
Authors, Artists and Contributors
Author / Creator
Suzuki, Toshifumi
Raveau, Matthieu
Miyake, Noriko
Sudo, Genki
Tsurusaki, Yoshinori
Watanabe, Takaki
Sugaya, Yuki
Tatsukawa, Tetsuya
Mazaki, Emi
Shimohata, Atsushi
Kushima, Itaru
Aleksic, Branko
Shiino, Tomoko
Toyota, Tomoko
Iwayama, Yoshimi
Nakaoka, Kentaro
Ohmori, Iori
Sasaki, Aya
Watanabe, Ken
Hirose, Shinichi
Kaneko, Sunao
Inoue, Yushi
Yoshikawa, Takeo
Ozaki, Norio
Kano, Masanobu
Shimoji, Takeyoshi
Matsumoto, Naomichi
Yamakawa, Kazuhiro
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_67ede20262d942a7af3cbb0166cf35a4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_67ede20262d942a7af3cbb0166cf35a4
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.51093
