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In this study, we have identified the penetrance of the novel mutations of EDNRB gene in two Pakistani families suffering with WS4.
Prognostic value of CpG island hypermethylation at PTGS2, RAR-beta, EDNRB, and other gene loci in patients undergoing radical prostatectomy.
WS type 1 and 3 have been associated with mutations in the PAX3 gene; WS type 2 with the MITF gene; and WS type 4 with the EDNRB and EDN3 genes.
CACNA1D, EDNRA, KCNG2, NR3C2, PDE4D, ACE, ADRA1B, ADRB3, KCNJ11, ADRAJD Cardiac dilation Imipramine EPO, NOS1 Pulmonary hypertension EtOH-Fr EDNRB, FTGER3, PDE5A Pulmonary hypertension Imipramine EPO, EDNRB, FLT3, ABL1, EDNRA, ADRA1B, ADRB3, ADRA1D Increased levels of alkaline EtOH-Fr VEGFA phosphatase Bold indicate that these genes are prevalent in several disease clusters.
More recently gene mapping analysis in river buffalo revealed that the closest genes spanning fragile sites are RASA1, CAST, NPR3, C9, OarCP09, PLP and BTK and EDNRB.