MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia-Reference-Cited by-同舟云学术

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

Published:2018-03-14 Issue:6 Volume:2 Page:586-596
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Germeshausen Manuela¹,Ancliff Phil²,Estrada Jaime³,Metzler Markus⁴,Ponstingl Eva⁵,Rütschle Horst⁵,Schwabe Dirk⁶,Scott Richard H.⁷,Unal Sule⁸,Wawer Angela⁹,Zeller Bernward¹⁰,Ballmaier Matthias¹

Affiliation:

1. Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany;

2. Haematology and Oncology Department, Great Ormond Street Hospital for Children, London, United Kingdom;

3. Pediatric Specialists of Texas, Methodist Healthcare System, San Antonio, TX;

4. Pediatric Oncology and Hematology, University Hospital Erlangen, Erlangen, Germany;

5. Pediatric Practice Horst Rütschle, Mutterstadt, Germany;

6. Pediatric Oncology, Hematology and Hemostaseology, University Hospital Frankfurt, Frankfurt, Germany;

7. Clinical Genetics Department, Great Ormond Street Hospital for Children, London, United Kingdom;

8. Center for Fanconi Anemia and Inherited Bone Marrow Failure Syndromes, Hacettepe University, Ankara, Turkey;

9. Division of Pediatric Hematology/Oncology, Department of Pediatrics, Technische Universität München, Munich, Germany; and

10. Department of Pediatric and Adolescent Medicine, Oslo University Hospital Rikshospitalet, Oslo, Norway

Abstract

Key Points Germ line mutations in MECOM cause a heterogeneous bone marrow failure syndrome with congenital hypomegakaryocytic thrombocytopenia. MECOM-associated syndrome includes various organ malformations with variable penetrance, including radioulnar synostosis.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/2/6/586/882949/advances016501.pdf

Reference50 articles.

1. Concise review: getting to the core of inherited bone marrow failures;Adam;Stem Cells,2017

2. c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia;Ballmaier;Blood,2001

3. Advances in the understanding of congenital amegakaryocytic thrombocytopenia;Ballmaier;Br J Haematol,2009

4. Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation;Thompson;Nat Genet,2000

5. Congenital thrombocytopenia and radio-ulnar synostosis: a new familial syndrome;Thompson;Br J Haematol,2001

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