Newly identified phenotypes in a FIP1L1/PDGFRA-associated paediatric HES patient: thrombocytosis, mHPA, young stroke and blindness

J Eur Acad Dermatol Venereol. 2015 Mar;29(3):614-6. doi: 10.1111/jdv.12416. Epub 2014 Feb 27.

Authors

K Zeng¹, L Li, L Huang, Y-H Liang

Affiliation

¹ Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

PMID: 24576219
DOI: 10.1111/jdv.12416

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Blindness / complications
Blindness / genetics*
Child
Female
Humans
Hypereosinophilic Syndrome / complications
Hypereosinophilic Syndrome / genetics*
Oncogene Proteins, Fusion / genetics*
Phenotype
Receptor, Platelet-Derived Growth Factor alpha / genetics*
Stroke / complications
Stroke / genetics*
Thrombocytosis / complications
Thrombocytosis / genetics*
mRNA Cleavage and Polyadenylation Factors / genetics*

Substances

Oncogene Proteins, Fusion
mRNA Cleavage and Polyadenylation Factors
FIP1L1-PDGFRA fusion protein, human
Receptor, Platelet-Derived Growth Factor alpha