id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_sfjop5zs6fbtfjinwzf7getzta	Kerstin Reicherter	Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations	2011.0	3	.pdf	application/pdf	1733	187	61	type of skeletal dysplasia resulting in short-limbed We report two patients with CHH caused by the two novel RMRP mutations c.94_96dupAGT sibling was a 15-year-old girl with short fingers at Network (ESDN) clinical-radiographic review Cartilage-hair Hypoplasia Caused by Novel Compound Heterozygous RMRP Mutations and*Department of Clinical Genetics, Fetal Care Research Foundation, Chennai, India. Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. diagnosis confirmed two novel RMRP mutations in a compound heterozygous Key words: India, Metaphyseal chondrodysplasia, RMRP mutation, Skeletal Zankl, Dr Sheila Unger and the ESDN clinical-radiographic was involved in the RMRP mutation analysis and the Thereby the novel RMRP mutations Mutations in the RMRP gene lead to a analysis of the RMRP gene in the affected siblings identified two novel mutations, c.94_96dupAGT RMRP gene sequence analysis confirms a cartilage-hair Key words: Acute rheumatic fever, Arthritis, Atypical Cogan's syndrome,	./cache/work_sfjop5zs6fbtfjinwzf7getzta.pdf	./txt/work_sfjop5zs6fbtfjinwzf7getzta.txt