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Editing-molecule mutation causes fatal primordial dwarfism

from ScienceDaily

Fetuses with defects in a molecular machine that edits information cells use to make proteins can develop a rare form of dwarfism, according to a new study led by researchers at the Ohio State University Comprehensive Cancer Center -- Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. The defect, triggered by a tiny gene mutation, causes microcephalic osteodysplastic primoridal dwarfism type 1, a rare developmental disorder that greatly slows growth in the uterus and causes severe brain and organ abnormalities, deformities of the arms and legs, and death in infancy or early childhood. more


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