与小鼠突变“紊乱（Ds）”中出现的畸形相似的人类畸形。
Human malformations similar to those in the mouse mutation disorganization (Ds).
作者信息
Robin N H, Adewale O O, McDonald-McGinn D, Nadeau J H, Zackai E H, Bućan M
机构信息
Children's Hospital of Philadelphia, PA 19104.
出版信息
Hum Genet. 1993 Nov;92(5):461-4. doi: 10.1007/BF00216451.
PMID:8244336
Abstract
We report two patients with malformations similar to those seen in mice with the disorganization (Ds) mutation. The first case has a body wall defect, limb malformation, and hamartoma, while the second case has a partially duplicated foot, in addition to the other anomalies. We discuss the implications that recent advances regarding the genetic analysis of the mouse Ds locus have for the search for the human homologue.
摘要
我们报告了两名患有与携带紊乱（Ds）突变的小鼠所见畸形相似的患者。第一例患者有体壁缺陷、肢体畸形和错构瘤，而第二例患者除了有其他异常外，还有部分重复的足部。我们讨论了小鼠Ds基因座遗传分析的最新进展对寻找人类同源物的意义。
Zotero 插件