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Lymphatic malformation 2
- ... Tests of GJC2 PubMed GAP JUNCTION PROTEIN, GAMMA-2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ... M, Jeffery S, Mortimer P. Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet. 2005 Feb;42(2):98-102. doi: 10.1136/jmg.2004.024802. ...
- ... play its role in the formation of the lymphatic vessel epithelium. The resulting malformation of lymphatic vessels leads to lymphangiectasia, lymphedema, and ...
- ... drosophila Delta homolog 4 hdelta2 notch ligand delta-2 notch ligand DLL4 Tests of DLL4 PubMed DELTA- ...
- ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. Most CCBE1 gene mutations change single protein ... generalised lymphatic dysplasia. Hum Genet. 2010 Feb;127(2):231-41. doi: 10.1007/s00439-009-0766- ...
- ... affected individuals have fusion of the skin between two or more fingers or toes (cutaneous syndactyly).Additional ... MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal ...
- ... back pain.Bladder cancer is generally divided into two types, non-muscle invasive bladder cancer (NMIBC) and ... change single amino acids in the p110α protein. Two common mutations occur in the same region and ...
- ... Trenaunay syndrome. Am J Med Genet. 1998 Oct 2;79(4):319-26. Citation on PubMed Gloviczki ...