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

Clin Dysmorphol. 2018 Jan;27(1):9-11. doi: 10.1097/MCD.0000000000000200.

Authors

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

Affiliation

¹ aGenomic Medicine ProgrambDr John T. Macdonald Foundation Department of Human GeneticscDivision of Pediatric Hematology and Oncology, Department of PediatricsdJohn P. Hussman Institute for Human GenomicseDepartment of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida, USA.

PMID: 29200407
DOI: 10.1097/MCD.0000000000000200

No abstract available

Publication types

Case Reports

MeSH terms

Black or African American
Child
Child, Preschool
Congenital Bone Marrow Failure Syndromes
Humans
MDS1 and EVI1 Complex Locus Protein / genetics*
MDS1 and EVI1 Complex Locus Protein / metabolism
Radius / abnormalities*
Synostosis / genetics*
Thrombocytopenia / genetics
Ulna / abnormalities*

Substances

MDS1 and EVI1 Complex Locus Protein
MECOM protein, human

Supplementary concepts

Congenital amegakaryocytic thrombocytopenia
Radioulnar Synostosis