Cat eye syndrome associated with aganglionosis of the small and large intestine.
Cat eye syndrome associated with aganglionosis of the small and large intestine.
复制标题
与小肠和大肠神经节缺失相关的猫眼综合征。
DOI:
10.1136/jmg.26.10.647
复制
发表时间:
1989
影响因子:
4
通讯作者:
Ivan A Sierra
中科院分区:
文献类型:
--
作者:
John Ward;Ivan A Sierra
A newborn male infant is presented with the characteristic phenotype of the cat eye syndrome and a small supernumerary chromosome shorter than a 22. He also had complete absence of parasympathetic ganglion cells throughout the small and large intestine.