HUMAN MALFORMATIONS SIMILAR TO THOSE IN THE MOUSE MUTATION DISORGANIZATION (DS)

Citation
Nh. Robin et al., HUMAN MALFORMATIONS SIMILAR TO THOSE IN THE MOUSE MUTATION DISORGANIZATION (DS), Human genetics, 92(5), 1993, pp. 461-464
Citations number
20
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
03406717
Volume
92
Issue
5
Year of publication
1993
Pages
461 - 464
Database
ISI
SICI code
0340-6717(1993)92:5<461:HMSTTI>2.0.ZU;2-3
Abstract
We report two patients with malformations similar to those seen in mic e with the disorganization (Ds) mutation. The first case has a body wa ll defect, limb malformation, and hamartoma, while the second case has a partially duplicated foot, in addition to the other anomalies. We d iscuss the implications that recent advances regarding the genetic ana lysis of the mouse Ds locus have for the search for the human homologu e.