Human malformations similar to those in the mouse mutation disorganization (Ds).
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.
Robin
N H
NH
Children's Hospital of Philadelphia, PA 19104.
Adewale
O O
OO
McDonald-McGinn
D
D
Nadeau
J H
JH
Zackai
E H
EH
Bućan
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains / Q000235:genetics*; D009154:Mutation