Literature DB >> 30267900

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

Yoko Narumi-Kishimoto1, Naomi Araki2, Ohsuke Migita3, Tomoko Kawai4, Kohji Okamura5, Kazuhiko Nakabayashi4, Tadashi Kaname6, Yuri Ozawa7, Hiroshi Ozawa7, Fumio Takada2, Kenichiro Hata4.   

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Year:  2018        PMID： 30267900     DOI： 10.1016/j.ejmg.2018.09.014

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


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  3 in total

1.  Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome.

Authors:  Monica Penon-Portmann; Colleen M Carlston; Pierre-Marie Martin; Anne Slavotinek
Journal:  Mol Syndromol       Date:  2022-02-25

2.  Behavior and cognitive functioning in Witteveen-Kolk syndrome.

Authors:  Linde C M van Dongen; Ellen Wingbermühle; Alexander J M Dingemans; Anja G Bos-Roubos; Karlijn Vermeulen; Monica Pop-Purceleanu; Tjitske Kleefstra; Jos I M Egger
Journal:  Am J Med Genet A       Date:  2020-08-11       Impact factor: 2.802

3.  Soft repression: Subtle transcriptional regulation with global impact.

Authors:  Anindita Mitra; Ana-Maria Raicu; Stephanie L Hickey; Lori A Pile; David N Arnosti
Journal:  Bioessays       Date:  2020-11-20       Impact factor: 4.653
  3 in total

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