A novel MECOM variant associated with congenital amegakaryocytic thrombocytopenia and radioulnar synostosis

Pediatr Blood Cancer. 2022 Dec;69(12):e29761. doi: 10.1002/pbc.29761. Epub 2022 Apr 29.

Authors

Hanan Al-Abboh¹, Akmal Zahra¹, Adekunle Adekile^{1

2}

Affiliations

¹ Pediatric Hematology Unit, Mubarak Hospital, Al-Jabiriyah, Kuwait.
² Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.

PMID: 35484980
DOI: 10.1002/pbc.29761

No abstract available

Publication types

Letter

MeSH terms

Humans
MDS1 and EVI1 Complex Locus Protein
Radius / abnormalities
Synostosis* / genetics
Ulna / abnormalities

Substances

MECOM protein, human
MDS1 and EVI1 Complex Locus Protein

Supplementary concepts

Radioulnar Synostosis
Congenital amegakaryocytic thrombocytopenia