# <i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/i-mll2-i-and-i-kdm6a-i-mutations-in-patients-with-kabuki-syndrome/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Noriko Miyake,Eriko Koshimizu,Nobuhiko Okamoto,Seiji Mizuno,Tsutomu Ogata,Toshiro Nagai,Tomoki Kosho,Hirofumi Ohashi,Mitsuhiro Kato,Goro Sasaki,Hiroyo Mabe,Yoriko Watanabe,Makoto Yoshino,Toyojiro Matsuishi,Jun‐ichi Takanashi,Vorasuk Shotelersuk,Mustafa Tekin,Nobuhiko Ochi,Masaya Kubota,Naoko Ito,Kenji Ihara,Toshiro Hara,Hidefumi Tonoki,Tohru Ohta,Kayoko Saito,Mari Matsuo,Mari Urano,Takashi Enokizono,Astushi Sato,Hiroyuki Tanaka,Atsushi Ogawa,Takako Fujita,Yoko Hiraki,Sachiko Kitanaka,Yoichi Matsubara,Toshio Makita,Masataka Taguri,Mitsuko Nakashima,Yoshinori Tsurusaki,Hirotomo Saitsu,Ko‐ichiro Yoshiura,Naomichi Matsumoto,Norio Niikawa |
| Citations | 179 |
| DOI | 10.1002/ajmg.a.36072 |
| Fields | Biochemistry, Genetics and Molecular Biology,Immunology and Microbiology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ajmg.a.36072 |
| OpenAlex ID | https://openalex.org/W1990182880 |
| PMID | 23913813 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Toshiro Nagai](https://scholariq.org/researchers/toshiro-nagai/)

## Paper journal

- [American Journal of Medical Genetics Part A](https://scholariq.org/journals/american-journal-of-medical-genetics-part-a/)

## Paper primary topic

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)

## Paper topics

- [Genomics and Rare Diseases](https://scholariq.org/topics/genomics-and-rare-diseases/)
- [Genomic variations and chromosomal abnormalities](https://scholariq.org/topics/genomic-variations-and-chromosomal-abnormalities/)
- [Immunodeficiency and Autoimmune Disorders](https://scholariq.org/topics/immunodeficiency-and-autoimmune-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.