Article
Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
American journal of human genetics - 1 Jul 1998
Kant S G, Polinkovsky A, Mundlos S, Zabel B, Thomeer R T, Zonderland H M, Shih L, van Haeringen A, Warman M L
Abstract excerpt
Acromesomelic dysplasias are skeletal disorders that disproportionately affect the middle and distal segments of the appendicular skeleton. We report genetic mapping studies in four families with acromesomelic dysplasia Maroteaux type (AMDM), an autosomal recessive osteochondrodysplasia. A peak LOD score of 5.1 at recombination fraction 0 was obtained with fully informative markers on human chromosome 9. In three...
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