Phenotypic heterogeneity associated with a novel <i>MECOM</i> variant: Mild thrombocytopenia to hydrops fetalis-Reference-Cited by-同舟云学术

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Phenotypic heterogeneity associated with a novel MECOM variant: Mild thrombocytopenia to hydrops fetalis

Published:2024-04-11 Issue:7 Volume:71 Page:
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatric Blood & Cancer

Author:

Jaspersen Sue L.¹^ORCID,Stacy Andrea V.¹,McGlynn Mary Claire¹^ORCID,Gooch Catherine F.²,Wilson David B.¹,Bolton Kelly L.³

Affiliation:

1. Department of Pediatrics Division of Hematology and Oncology Washington University School of Medicine St. Louis Missouri USA

2. Department of Pediatrics Division of Genetics and Genomic Medicine Washington University School of Medicine St. Louis Missouri USA

3. John T. Milliken Department of Medicine Washington University School of Medicine St. Louis Missouri USA

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/pbc.30991

Reference9 articles.

1. MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development

2. Fetal hydrops caused by a novel pathogenic MECOM variant

3. Perinatal-lethal nonimmune fetal hydrops attributed toMECOM-associated bone marrow failure

4. SomaticMECOMmosaicism in a patient with congenital bone marrow failure without a radial abnormality

5. Phenotypic heterogeneity in individuals with MECOM variants in 2 families

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