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Lymphatic malformation 3
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LYMPHATIC MALFORMATION 1; LMPHM1 PubMed Brice G, Child AH, Evans A, Bell R, Mansour S, Burnand K, Sarfarazi M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42( ...
- ... gene mutations that cause Hennekam syndrome change the three-dimensional shape of the ... of lymphatic vessels leads to lymphangiectasia, lymphedema, and ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov LYMPHATIC MALFORMATION 5; LMPHM5 PubMed Connell FC, Gordon K, Brice ... FOXC2. Eur J Hum Genet. 2008 Mar;16(3):300-4. doi: 10.1038/sj.ejhg.5201982. ...
- ... skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port- ... one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). PI3K plays a role in chemical ...
- ... one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K), which plays a role in chemical ... Kurek KC, Warman ML, McCarroll SA, Murillo R. Lymphatic and other vascular malformative/overgrowth ... malformation: Analysis of 13 patients and review of the ...