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References

These sources were used to develop the Genetics Home Reference gene summary on the EDN3 gene.

Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. PubMed citation
Duan XL, Zhang XS, Li GW. Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung's disease. World J Gastroenterol. 2003 Dec;9(12):2839-42. PubMed citation
Entrez Gene
Heuckeroth RO. Finding your way to the end: a tale of GDNF and endothelin-3. Neuron. 2003 Dec 4;40(5):871-3. Review. PubMed citation
Kapur RP, Gershon MD, Milla PJ, Pachnis V. The influence of Hox genes and three intercellular signalling pathways on enteric neuromuscular development. Neurogastroenterol Motil. 2004 Apr;16 Suppl 1:8-13. Review. PubMed citation
OMIM: ENDOTHELIN 3
Pingault V, Bondurand N, Lemort N, Sancandi M, Ceccherini I, Hugot JP, Jouk PS, Goossens M. A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? J Med Genet. 2001 Mar;38(3):205-9. PubMed citation
Shin MK, Levorse JM, Ingram RS, Tilghman SM. The temporal requirement for endothelin receptor-B signalling during neural crest development. Nature. 1999 Dec 2;402(6761):496-501. PubMed citation
Svensson PJ, Von Tell D, Molander ML, Anvret M, Nordenskjöld A. A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease. Pediatr Res. 1999 May;45(5 Pt 1):714-7. PubMed citation


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