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Lymphatic malformation 12
- ... connexin-47 CX46.6 Cx47 gap junction alpha-12 protein gap junction gamma-2 protein gap junction protein, gamma 2, 47kDa GJA12 Tests of GJC2 PubMed GAP JUNCTION PROTEIN, GAMMA-2; GJC2 LYMPHATIC MALFORMATION 3; LMPHM3 SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44 ...
- ... cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. Most CCBE1 gene mutations change single protein ... dysplasia in humans. Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484. Citation ...
- ... e1-5. doi: 10.1016/j.jpeds.2014.12.069. Epub 2015 Feb 11. Citation on PubMed ...