Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation

Nat Genet. 2000 Dec;26(4):397-8. doi: 10.1038/82511.

Authors

A A Thompson¹, L T Nguyen

Affiliation

¹ Department of Pediatrics, Division of Hematology/Oncology, Gwynne Hazen Cherry Memorial Laboratories, University of California, Los Angeles School of Medicine, Los Angeles, California, USA. athompsn@ucla.edu

PMID: 11101832
DOI: 10.1038/82511

No abstract available

MeSH terms

Amino Acid Sequence
Base Sequence
Child
DNA Mutational Analysis
Exons
Female
Genes, Homeobox
Homeodomain Proteins / genetics*
Humans
Male
Megakaryocytes / pathology
Molecular Sequence Data
Pedigree
Point Mutation*
Radius / abnormalities
Sequence Deletion
Synostosis / complications*
Synostosis / genetics*
Synostosis / pathology
Thrombocytopenia / complications*
Thrombocytopenia / genetics*
Thrombocytopenia / pathology
Ulna / abnormalities

Substances

HOXA11 protein, human
Homeodomain Proteins