A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome) - Concepedia

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A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

DOI Full Paper Access

298

Citations

18

References

1996

Year

Robert M.W. Hofstra, Jan Osinga, Gita Tan-Sindhunata, Ying Wu, Erik-J. Kamsteeg, Rein P. Stulp, Conny M.A. van Ravenswaaij‐Arts, Daniëlle Majoor‐Krakauer, Misha Angrist, Aravinda Chakravarti,

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathogenesisMolecular BiologyHomozygous MutationShah-waardenburg SyndromeMolecular GeneticsDisease Gene IdentificationMedicineGenetic BasisEndothelin-3 Gene

References

	Year	Citations

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