Faculty Research 1990 - 1999

Title

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

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.

Please contact the Joan Staats Library for information regarding this document.

Share

COinS