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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis.

Cartilage-hair hypoplasia ( CHH) is a rare autosomal recessive skeletal dysplasia characterized by short stature, sparse hair, and a variable degree of immunodeficiency. We describe here the prenatal diagnosis of CHH in a woman who was previously delivered of a similarly affected infant. In addition, we review the prenatal diagnostic implications of the localization, by linkage analysis, of the gene responsible for many cases of CHH.[1]


  1. Cartilage-hair hypoplasia syndrome: implications for prenatal diagnosis. Dungan, J.S., Emerson, D.S., Phillips, O.P., Shulman, L.P. Fetal. Diagn. Ther. (1996) [Pubmed]
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