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

Pediatr Blood Cancer. 2024 Jul;71(7):e30991. doi: 10.1002/pbc.30991. Epub 2024 Apr 11.

Authors

Sue L Jaspersen¹, Andrea V Stacy¹, Mary Claire McGlynn¹, Catherine F Gooch², David B Wilson¹, Kelly L Bolton³

Affiliations

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.

PMID: 38602302
DOI: 10.1002/pbc.30991

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Female
Humans
Hydrops Fetalis* / diagnosis
Hydrops Fetalis* / genetics
Infant, Newborn
Male
Phenotype
Prognosis
Thrombocytopenia* / genetics
Thrombocytopenia* / pathology