Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

MN1 was originally identified as a tumor-suppressor gene. Knockout mouse studies have suggested that Mn1 is associated with craniofacial development. However, no MN1-related phenotypes have been established in humans. Here, we report on three individuals who have de novo MN1 variants that lead to a...

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Publicado en:Am J Hum Genet
Main Authors: Miyake, Noriko, Takahashi, Hidehisa, Nakamura, Kazuyuki, Isidor, Bertrand, Hiraki, Yoko, Koshimizu, Eriko, Shiina, Masaaki, Sasaki, Kazunori, Suzuki, Hidefumi, Abe, Ryota, Kimura, Yayoi, Akiyama, Tomoko, Tomizawa, Shin-ichi, Hirose, Tomonori, Hamanaka, Kohei, Miyatake, Satoko, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Obo, Kazuyuki, Kato, Mitsuhiro, Ogata, Kazuhiro, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7042485/
https://ncbi.nlm.nih.gov/pubmed/31839203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.11.011
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