Disease: Cartilage hair hypoplasia like syndrome
- Cartilage hair hypoplasia and celiac disease: report of an Indian girl with novel genotype
- Cartilage hair hypoplasia: immunological aspects and their clinical implications
- Chronic excretion of a norovirus in a child with cartilage hair hypoplasia (CHH)
- Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency
- Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature
- Fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia
- Hypo- and Hyper-Assembly Diseases of RNA-Protein Complexes
- MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type
- Treatment of cartilage-hair hypoplasia with recombinant human growth hormone