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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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Publicado en:Nat Commun
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group UK 2020
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Acceso en liña: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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