Boardman, JP and Syrris, P and Holder, SE and Robertson, NJ and Carter, N and Lakhoo, K (2001) A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome. J MED GENET , 38 (9) 646 - 647.
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| Type: | Article |
|---|---|
| Title: | A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome |
| Keywords: | HIRSCHSPRUNG-DISEASE, RET, PROTOONCOGENE |
| UCL classification: | UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
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