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Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and White-Sutton syndrome; however, the neurobiolo...

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Veröffentlicht in:Nat Commun
Hauptverfasser: Matsumura, Kensuke, Seiriki, Kaoru, Okada, Shota, Nagase, Masashi, Ayabe, Shinya, Yamada, Ikuko, Furuse, Tamio, Shibuya, Hirotoshi, Yasuda, Yuka, Yamamori, Hidenaga, Fujimoto, Michiko, Nagayasu, Kazuki, Yamamoto, Kana, Kitagawa, Kohei, Miura, Hiroki, Gotoda-Nishimura, Nanaka, Igarashi, Hisato, Hayashida, Misuzu, Baba, Masayuki, Kondo, Momoka, Hasebe, Shigeru, Ueshima, Kosei, Kasai, Atsushi, Ago, Yukio, Hayata-Takano, Atsuko, Shintani, Norihito, Iguchi, Tokuichi, Sato, Makoto, Yamaguchi, Shun, Tamura, Masaru, Wakana, Shigeharu, Yoshiki, Atsushi, Watabe, Ayako M., Okano, Hideyuki, Takuma, Kazuhiro, Hashimoto, Ryota, Hashimoto, Hitoshi, Nakazawa, Takanobu
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2020
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7044294/
https://ncbi.nlm.nih.gov/pubmed/32103003
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-020-14697-z
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