Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.

doi:10.1016/j.clim.2008.11.001

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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...

Topics

Adolescent
Adult
Child
Child, Preschool
Cohort Studies
DNA
Endoribonucleases
Female
Humans
Infant
Male
Osteochondrodysplasias
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
Retrospective Studies
Ribonucleoproteins
Young Adult

Source

Open in PubMed

Identifiers

PMID: 19150606
DOI: 10.1016/j.clim.2008.11.001

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