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acromesomelic dysplasia


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A group of disorders in which there is disproportionate shortening of skeletal elements, particularly the middle and distal parts of the limbs. Maroteaux-type acromesomelic dysplasia (AMDM) is caused by mutation in the receptor (NPR-B) for C-type natriuretic peptide, which is important for bone growth. The Hunter–Thompson type of acromesomelic dysplasia (AMDH) and the Grebe type (AMDG) are caused by allelic mutations in the gene that encodes cartilage-derived morphogenetic protein-1, one of the transforming growth factor β family of growth factors (growth/differentiation factor 5).

Subjects: Medicine and Health.


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