Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome

Leukemia. 2007 Jun;21(6):1303-5. doi: 10.1038/sj.leu.2404651. Epub 2007 Mar 15.

Authors

A Karow, D Steinemann, G Göhring, H Hasle, J Greiner, A Harila-Saari, C Flotho, M Zenker, B Schlegelberger, C M Niemeyer, C P Kratz

PMID: 17361219
DOI: 10.1038/sj.leu.2404651

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Child, Preschool
Germ-Line Mutation
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Noonan Syndrome / genetics*
Noonan Syndrome / pathology
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Protein Tyrosine Phosphatases / genetics*
Uniparental Disomy

Substances

Intracellular Signaling Peptides and Proteins
PTPN11 protein, human
Protein Tyrosine Phosphatase, Non-Receptor Type 11
Protein Tyrosine Phosphatases

Associated data

OMIM/163950