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Lymphatic malformation 3
- ... GJC2 PubMed GAP JUNCTION PROTEIN, GAMMA-2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 NCBI ...
- ... 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( ...
- ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. Most CCBE1 gene mutations change single protein building blocks (amino acids) in the CCBE1 protein leading to a change in the three-dimensional shape of the protein. The abnormal protein ...
- ... 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. ...
- Lymphedema (Lymphatic Education & Research Network)Lymphedema/Start Here ... Lymphedema ... Lymphatic Education & Research Network ... lymphedema, lymphatic system, risk of lymphedema, treatment for lymphedema ... Lymphedema ...
- About Congenital Anomalies (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Birth Defects/Start Here ... Birth Defects ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Congenital anomalies are structural ...
- How Do Health Care Providers Diagnose Congenital Anomalies? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)Birth Defects/Diagnosis and Tests ... Birth Defects ... Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Diagnosis of congenital anomalies ...
- ... one piece (subunit) of an enzyme called phosphatidylinositol 3-kinase (PI3K). The p110α protein is called the ...
- ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system, which consists of a network of vessels ... FAT4. Int J Mol Med. 2006 Sep;18(3):523-8. Citation on PubMed