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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044294/
https://www.ncbi.nlm.nih.gov/pubmed/32103003
http://dx.doi.org/10.1038/s41467-020-14697-z