Literature DB >> 29200407

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia.

Steven V Lord1, Joaquin E Jimenez, Zachary A Kroeger, Cory S Patrick, Isalis Sanchez-Pena, Edward Ziga, Guney Bademci, Mustafa Tekin.   

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Year:  2018        PMID： 29200407     DOI： 10.1097/MCD.0000000000000200

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  3 in total

1.  Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Authors:  Amanda Walne; Hemanth Tummala; Alicia Ellison; Shirleny Cardoso; Jasmin Sidhu; Gabriela Sciuccati; Tom Vulliamy; Inderjeet Dokal
Journal:  Haematologica       Date:  2018-03-08       Impact factor: 9.941

Review 2.  Treatment of inherited thrombocytopenias.

Authors:  Carlo L Balduini
Journal:  Haematologica       Date:  2022-06-01       Impact factor: 11.047

3.  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
  3 in total

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