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Oshima T, Hara H, Takeda N, et al. A novel mutation of . Hum Genome Var. 2017;4:17022doi: 10.1038/hgv.2017.22.
Oshima, T., Hara, H., Takeda, N., Hasumi, E., Kuroda, Y., Taniguchi, G., Inuzuka, R., Nawata, K., Morita, H., & Komuro, I. (2017). A novel mutation of . Human genome variation, 417022. https://doi.org/10.1038/hgv.2017.22
Oshima, Tsukasa, et al. "A novel mutation of ." Human genome variation vol. 4 (2017): 17022. doi: https://doi.org/10.1038/hgv.2017.22
Oshima T, Hara H, Takeda N, Hasumi E, Kuroda Y, Taniguchi G, Inuzuka R, Nawata K, Morita H, Komuro I. A novel mutation of . Hum Genome Var. 2017 Jun 01;4:17022. doi: 10.1038/hgv.2017.22. eCollection 2017. PMID: 28584646; PMCID: PMC5451486.
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Hum Genome Var. 2017 Jun 01;4:17022. doi: 10.1038/hgv.2017.22. eCollection 2017.

A novel mutation of .

Human genome variation

Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda, Go Taniguchi, Ryo Inuzuka, Kan Nawata, Hiroyuki Morita, Issei Komuro

Affiliations

  1. Department of Cardiovascular Medicine, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
  2. Department of Pediatrics, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
  3. Department of Neuropsychiatry, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.
  4. Department of Cardiovascular Surgery, The University of Tokyo Hospital, Bunkyo-ku, Tokyo, Japan.

PMID: 28584646 PMCID: PMC5451486 DOI: 10.1038/hgv.2017.22

Abstract

Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the

Conflict of interest statement

The authors declare no conflict of interest.

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