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Screening for Congenital Thrombocytopenia Using a Targeted Sequencing Panel
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  • Hiroyuki Kawaguchi,
  • Yumi Ogura,
  • Kenji Uematsu,
  • Katsuyoshi Koh,
  • Hiroshi Yoshino,
  • Chihaya Imai,
  • Ryo Inuzuka,
  • Masayuki Nagasawa,
  • Shigeaki Nonoyama,
  • Shinji Kunishima
Hiroyuki Kawaguchi
Boei Ika Daigakko

Corresponding Author:hiroyuki.kawaguchi@gmail.com

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Yumi Ogura
Boei Ika Daigakko
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Kenji Uematsu
Boei Ika Daigakko
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Katsuyoshi Koh
Saitama Kenritsu Shoni Iryo Center
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Hiroshi Yoshino
Kyorin Daigaku
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Chihaya Imai
Niigata Daigaku
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Ryo Inuzuka
Tokyo Daigaku Igakubu Fuzoku Byoin
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Masayuki Nagasawa
Musashino Sekijuji Byoin
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Shigeaki Nonoyama
Boei Ika Daigakko
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Shinji Kunishima
Kokuritsu Byoin Kiko Nagoya Iryo Center
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Abstract

A targeted sequencing technique was applied to detect cases of suspected congenital thrombocytopenia as a case series study. Six of 18 patients tested had positive results from the existing catalogue, while a definitive diagnosis was not determined for the remaining 12. Two neonates revealed defects in PTPN11, indicating Noonan syndrome.