Article
Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.
Clinical immunology (Orlando, Fla.) - 1 Apr 2009
Rider Nicholas L, Morton D Holmes, Puffenberger Erik, Hendrickson Christine L, Robinson Donna L, Strauss Kevin A
Abstract excerpt
Cartilage-hair hypoplasia is a short limbed skeletal dysplasia associated with impairments in host-defense. To better understand the clinical heterogeneity of this disorder, we studied 25 Amish patients with homozygous mutations in RMRP (RMRP 70 A>G). Despite mutation homogeneity, eight (32%) patients had severe or recurrent infections, two (8%) of these children underwent bone-marrow transplantation for combined...
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