Literature DB >> 29356389

Somatic MECOM mosaicism in a patient with congenital bone marrow failure without a radial abnormality.

Tomoo Osumi1,2, Shin-Ichi Tsujimoto1, Kazuhiko Nakabayashi3, Maki Taniguchi2, Ryota Shirai1, Masanori Yoshida1, Toru Uchiyama4, Junko Nagasawa5, Susumu Goyama6, Takako Yoshioka7, Daisuke Tomizawa2, Mineo Kurokawa8, Yoichi Matsubara9, Nobutaka Kiyokawa1, Kimikazu Matsumoto2, Kenichiro Hata3, Motohiro Kato1,2.   

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Year:  2018        PMID： 29356389     DOI： 10.1002/pbc.26959

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


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  2 in total

1.  MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia.

Authors:  Manuela Germeshausen; Phil Ancliff; Jaime Estrada; Markus Metzler; Eva Ponstingl; Horst Rütschle; Dirk Schwabe; Richard H Scott; Sule Unal; Angela Wawer; Bernward Zeller; Matthias Ballmaier
Journal:  Blood Adv       Date:  2018-03-27

2.  A patient with very early onset FH-deficient renal cell carcinoma diagnosed at age seven.

Authors:  Rieko Taniguchi; Hideki Muramatsu; Yusuke Okuno; Taro Yoshida; Manabu Wakamatsu; Motoharu Hamada; Chiyoe Shirota; Wataru Sumida; Akinari Hinoki; Takahisa Tainaka; Yoshimitsu Gotoh; Toyonori Tsuzuki; Yukichi Tanaka; Seiji Kojima; Hiroo Uchida; Yoshiyuki Takahashi
Journal:  Fam Cancer       Date:  2021-06-22       Impact factor: 2.446
  2 in total

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