Immunodeficiency in cartilage-hair hypoplasia: correlation with pulmonary disease, infections and malignancy
Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia with short stature, hair hypoplasia, variable degree of immunodeficiency and increased risk of malignancy. The non-coding RNA gene RMRP is mutated in CHH. The gene has multiple functions, including cell cycle regualtion. Several aspects of CHH remain inadequately explored, including the pathogenesis, detailed characteristics of i...
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