A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.
Toshimitsu SuzukiToshifumi SuzukiMatthieu RaveauNoriko MiyakeGenki SudoYoshinori TsurusakiTakaki WatanabeYuki SugayaTetsuya TatsukawaEmi MazakiAtsushi ShimohataItaru KushimaBranko AleksicTomoko ShiinoTomoko ToyotaYoshimi IwayamaKentaro NakaokaIori OhmoriAya SasakiKen WatanabeShinichi HiroseSunao KanekoYushi InoueTakeo YoshikawaNorio OzakiMasanobu KanoTakeyoshi ShimojiNaomichi MatsumotoKazuhiro YamakawaPublished in: Annals of clinical and translational neurology (2020)
These findings propose novel candidate genes including PJA1 and MSX2 for NDDs associated with craniofacial abnormalities and/or epilepsy.
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