Center for Advanced Practice

Title

ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.

Authors

Dong Li, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Michael E March, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Alvaro Gutierrez-Uzquiza, Children's Hospital of Philadelphia, Philadelphia, PA
Charlly Kao, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Christoph Seiler, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Erin Pinto, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Leticia S Matsuoka, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Mark R Battig, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Elizabeth J Bhoj, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Tara L Wenger
Lifeng Tian, Children's Hospital of Philadelphia, Philadelphia, PA
Nora Robinson, Children's Hospital of Philadelphia, Philadelphia, PA
Tiancheng Wang, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Yichuan Liu, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Brant M Weinstein
Matthew Swift
Hyun Min Jung
Courtney N Kaminski, Children's Hospital of Philadelphia, Philadelphia, PA
Rosetta Chiavacci, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Jonathan A Perkins
Michael A Levine, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Patrick M A Sleiman, Children's Hospital of Philadelphia, Philadelphia, PA
Patricia J Hicks
Janet T Strausbaugh
Jean Belasco, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Yoav Dori, Children's Hospital of Philadelphia, Philadelphia, PAFollow
Hakon Hakonarson, Children's Hospital of Philadelphia, Philadelphia, PAFollow

Publication Title

Nature medicine

Document Type

Article

PubMed ID

31263281

Abstract

The treatment of lymphatic anomaly, a rare devastating disease spectrum of mostly unknown etiologies, depends on the patient manifestations

Keywords

Adult, Animals, Child, Female, HEK293 Cells, Humans, Lymphatic Abnormalities, Male, Mitogen-Activated Protein Kinase Kinases, Mutation, Proto-Oncogene Proteins A-raf, Pyridones, Pyrimidinones, Exome Sequencing, Zebrafish

DOI

10.1038/s41591-019-0479-2

Publication Date

7-1-2019

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