De novo novel splice-site mutation in FLT4/VEGFR3 is associated with Milroy disease

J Dermatol. 2021 Jan;48(1):e26-e28. doi: 10.1111/1346-8138.15627. Epub 2020 Sep 29.

Authors

Yuka Shibata¹, Toshio Okamoto², Takao Saruta³, Fumiya Matsuoka⁴, Mikiya Fujieda⁴, Shigetoshi Sano¹

Affiliations

¹ Department of Dermatology, Kochi Medical School, Kochi University, Nankoku, Japan.
² Asahikawa Medical University Hospital Center for Maternity and Infant Care, Asahikawa, Japan.
³ Saruta Skin Clinic, Kochi, Japan.
⁴ Department of Pediatrics, Kochi Medical School, Kochi University, Nankoku, Japan.

PMID: 32991753
DOI: 10.1111/1346-8138.15627

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Female
Humans
Infant
Lymphedema*
Mutation
Vascular Endothelial Growth Factor Receptor-3* / genetics

Substances

FLT4 protein, human
Vascular Endothelial Growth Factor Receptor-3