Associated Papers
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y et al.
Birth Defects Research, 2023
A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects.
Tabib A et al.
European Journal of Medical Research, 2022
Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.
Oliveira DM et al.
Oncotarget, 2018
29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2
Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.
Mendes Oliveira D et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2018
Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.
Mendola A et al.
Molecular Syndromology, 2013
Antenatal presentation of hereditary lymphedema type I.
Boudon E et al.
European Journal of Medical Genetics, 0
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