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bibliographicCitation Boardman JP, Syrris P, Holder SE, Robertson NJ, Carter N, Lakhoo K. A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. J Med Genet. 2001 Sep;38(9):646–7. PMID: 11565556; PMCID: PMC1734930.
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title A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
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