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

Hirschsprung disease associated with severe cartilage-hair hypoplasia.

Cartilage-hair hypoplasia is a chondrodysplasia with a high incidence of Hirschsprung disease. This study suggests that Hirschsprung disease is associated especially with severe cartilage-hair hypoplasia: the patients with Hirschsprung disease had severe growth failure and a higher incidence of alopecia, infections, malignancies, and childhood anemia than the patients with cartilage-hair hypoplasia who did not have Hirschsprung disease.[1]


  1. Hirschsprung disease associated with severe cartilage-hair hypoplasia. Mäkitie, O., Kaitila, I., Rintala, R. J. Pediatr. (2001) [Pubmed]
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