A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

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....

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Detalles Bibliográficos
Autores principales: 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, Yamakawa, Kazuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7359110/
https://www.ncbi.nlm.nih.gov/pubmed/32530565
http://dx.doi.org/10.1002/acn3.51093

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