del(20p) with manifestations of arteriohepatic dysplasia.
del(20p) with manifestations of arteriohepatic dysplasia.
复制标题
del(20p) 伴有动脉肝发育不良的表现。
DOI：
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复制
发表时间：
1986
期刊：
影响因子：
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通讯作者：
J. Reynolds
中科院分区：
文献类型：
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作者：
J. Byrne;M. Harrod;J. Friedman;P. Howard‐Peebles;J. M. Opitz;J. Reynolds
A small-for-gestational age white female infant was noted to have multiple minor anomalies and severe jejunal stenosis. Mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having arteriohepatic dysplasia. Chromosome analysis of peripheral blood leukocytes showed a 46,XX,del(20)(p11.2) chromosome constitution.
