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cartilage-hair hypoplasia


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A disease inherited as an autosomal recessive. Homozygous children have short limbs because of arrested cartilage growth, and their hair is sparse and light colored. The disease is the first one shown to be caused by mutations in an untranslated gene. The gene, RMRP (q.v.), transcribes an RNA that is used directly as a subunit of a mitochondrial enzyme. CHH was first observed among the Amish (q.v.), where its frequency is about 1.5 per 1,000 live births. See Chronology, 2001, Ridanpaa et al.

Subjects: Genetics and Genomics.


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