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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)

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

Book ID: 109915737
Publisher: Nature Publishing Group
Year: 1996
Tongue: English
Weight: 315 KB
Volume: 12
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0496-445

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