id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_ujlyihuwtvbltlknniwoj4jib4	Patrick Riley	Cartilage hair hypoplasia: characteristics and orthopaedic manifestations	2015.0	8	.pdf	application/pdf	4620	569	60	Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. manifestations, including joint laxity, limited elbow extension, ankle varus, and genu varum. Cartilage hair hypoplasia (CHH) has been reported in data on a large number of patients through clinical examinations, records, and radiographs of the largest accumulation of CHH cases so far encountered in North Weemaes C, Hamel B (1991) Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven Mäkitie O (1992) Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients. Mäkitie O, Kaitila I, Savilahti E (1998) Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia. Mäkitie O, Pukkala E, Teppo L, Kaitila I (1999) Increased incidence of cancer in patients with cartilage-hair hypoplasia. Mäkitie O, Kaitila I, Rintala R (2001) Hirschsprung disease associated with severe cartilage-hair hypoplasia. with cartilage-hair hypoplasia: case report. Cartilage hair hypoplasia: characteristics and orthopaedic manifestations	./cache/work_ujlyihuwtvbltlknniwoj4jib4.pdf	./txt/work_ujlyihuwtvbltlknniwoj4jib4.txt