TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata; Tetsuya Niihori; Noriko Tanaka; Masahiko Kawai; Takeshi Nagashima; Ryo Funayama; Keiko Nakayama; Shinichi Nakashima; Fumiko Kato; Maki Fukami; Yoko Aoki; Yoichi Matsubara

doi:10.1371/journal.pone.0091598

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Open Access

Peer-reviewed

Research Article

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata ,

Contributed equally to this work with: Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka

* E-mail: tomogata@hama-med.ac.jp

Affiliation Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
⨯
Tetsuya Niihori ,

Contributed equally to this work with: Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka

Affiliation Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
⨯
Noriko Tanaka ,

Contributed equally to this work with: Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka

Affiliation Department of Pediatrics, Kurashiki Central Hospital, Kurashiki, Japan
⨯
Masahiko Kawai,

Affiliation Department of Pediatrics, Kyoto University School of Medicine, Kyoto, Japan
⨯
Takeshi Nagashima,

Affiliation Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
⨯
Ryo Funayama,

Affiliation Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
⨯
Keiko Nakayama,

Affiliation Division of Cell Proliferation, United Centers for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
⨯
Shinichi Nakashima,

Affiliation Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
⨯
Fumiko Kato,

Affiliation Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
⨯
Maki Fukami,

Affiliation National Research Institute for Child Health and Development, Tokyo, Japan
⨯
Yoko Aoki,

Affiliation Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
⨯
Yoichi Matsubara

Affiliations Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan, National Research Institute for Child Health and Development, Tokyo, Japan
⨯

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata,
Tetsuya Niihori,
Noriko Tanaka,
Masahiko Kawai,
Takeshi Nagashima,
Ryo Funayama,
Keiko Nakayama,
Shinichi Nakashima,
Fumiko Kato,
Maki Fukami

Published: March 17, 2014
https://doi.org/10.1371/journal.pone.0091598

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