PT  - JOURNAL ARTICLE
AU  - R M Winter
TI  - Malformation syndromes: a review of mouse/human homology.
AID  - 10.1136/jmg.25.7.480
DP  - 1988 Jul 01
TA  - Journal of Medical Genetics
PG  - 480--487
VI  - 25
IP  - 7
4099  - http://jmg.bmj.com/content/25/7/480.short
4100  - http://jmg.bmj.com/content/25/7/480.full
SO  - J Med Genet1988 Jul 01; 25
AB  - The purpose of this paper is to review the known and possible homologies between mouse and human multiple congenital anomaly syndromes. By identifying single gene defects causing similar developmental abnormalities in mouse and man, comparative gene mapping can be carried out, and if the loci in mouse and man are situated in homologous chromosome segments, further molecular studies can be performed to show that the loci are identical. This paper puts forward tentative homologies in the hope that some will be investigated and shown to be true homologies at the molecular level, thus providing mouse models for complex developmental syndromes. The mouse malformation syndromes are reviewed according to their major gene effects. X linked syndromes are reviewed separately because of the greater ease of establishing homology for these conditions.