Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

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DOI:10.1093/hmg/5.3.355
作者：J Amiel, T Attié, D Jan, A Pelet, P Edery, C Bidaud, D Lacombe, P Tam, J Simeoni, E Flori, C Nihoul-Fékété, A Munnich, S Lyonnet
文献类型：期刊论文
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文献链接：https://doi.org/10.1093/hmg/5.3.355

Oxford University Press

Abstract：Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in

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