Editing-molecule mutation causes fatal primordial dwarfism

Fetuses with defects in a molecular machine that edits information cells use to make proteins can develop a rare form of dwarfism called microcephalic osteodysplastic primoridal dwarfism type 1. The findings could lead to a test for people who carry a copy of the mutation, to a better understanding of RNA splicing and to whether mutations of this type that arise during an individual's lifetime contribute to cancer or other diseases.

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