Article
Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.
Clinical genetics - 1 Apr 2000
Ianakiev P, Kilpatrick M W, Daly M J, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P
Abstract excerpt
The acromesomelic dysplasias (AMDs) are a group of genetic disorders that primarily affect the middle and distal segments of the extremities. A form of AMD is present on the isolated island of St Helena in the South Atlantic, which has a population of approximately 5500 derived from a number of founder individuals. DNA from four affected individuals and 11 first-degree relatives in four related nuclear families...
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