Clinical genetic characteristics of metaphyseal chondrodysplasia, McKusick type (cartilage-hair hypoplasia) in children caused by mutations in the RMRP gene: authors’ observations and literature review
Abstract:Introduction. Metaphyseal chondrodysplasia, McKusick type (MCD) (OMIM: #250250) (cartilage-hair hypoplasia) is a rare, autosomal recessive disorder with main clinical manifestations including disproportionate short stature, hair thinning and hypotrichosis. Some patients with MCD develop cellular and humoral immunodeficiency, bronchiectases and Hirschsprung disease. Such patients have an increased risk of developing malignant tumors and hypoplastic anemia. MCD is one of the rare monogenic disorders caused by mu… Show more
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