Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

Background Cartilage hair hypoplasia is an autosomal recessive type of metaphyseal chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA processing ( RMRP ) gene. Typical features of cartilage hair hypoplasia include short stature, a predisposition to malignancy, and a variable...

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