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

已完结 10 由王胖子的天发布于 2024/12/25 20:02:22

DOI:10.1038/ng0496-445
文献类型：期刊论文
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Nature

Abstract：Hirschsprung disease (HSCR) or colonic agan-glionosis is a congenital disorder characterized by an absence of intramural ganglia along variable lengths of the colon resulting in intestinal o

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