Faculty Research 1990 - 1999
Human malformations similar to those in the mouse mutation disorganization (Ds).
Document Type
Article
Publication Date
1993
Keywords
Animal, Case-Report, Chromosome-Abnormalities: ge, Hamartoma: ge, Human, Infant-Newborn, Male, Mice, Mice-Mutant-Strains: ge, Mutation, SUPPORT-U-S-GOVT-P-H-S
First Page
461
Last Page
464
JAX Source
Hum Genet 1993 Nov;92(5):461-4
Grant
HD25389/HD/NICHD, HD28410/HD/NICHD
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.
Recommended Citation
Robin NH,
Adewale OO,
McDonald MD,
Nadeau JH,
Zackai EH,
Bucan M.
Human malformations similar to those in the mouse mutation disorganization (Ds). Hum Genet 1993 Nov;92(5):461-4