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

Published: March 2001

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734825	PMC
http://dx.doi.org/10.1136/jmg.38.3.205	DOI Listing

Publication Analysis

heterozygous endothelin

endothelin mutation

mutation waardenburg-hirschsprung

waardenburg-hirschsprung disease

disease dosage

dosage edn3/ednrb

edn3/ednrb gene

gene mutations

mutations neurocristopathy

neurocristopathy phenotypes?

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