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Case Reports
. 1993 Nov;92(5):461-4.
doi: 10.1007/BF00216451.

Human malformations similar to those in the mouse mutation disorganization (Ds)

N H Robin  1 , O O Adewale, D McDonald-McGinn, J H Nadeau, E H Zackai, M Bućan
Affiliations
Case Reports

Human malformations similar to those in the mouse mutation disorganization (Ds)

N H Robin et al. Hum Genet. 1993 Nov.

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.

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