title: Cartilage-hair hypoplasia caused by novel compound heterozygous RMRP mutations.
abstract: Cartilage-hair hypoplasia is a rare, autosomal recessive skeletal dysplasia, caused by mutations in the RMRP gene. The skeletal abnormalities include irregular metaphyses and cone shaped epiphyses of the hands. Molecular diagnosis confirmed two novel RMRP mutations in a compound heterozygous state in two siblings with this condition.
authors.affiliation: Center for Pediatrics and Adolescent Medicine and Faculty of Biology, University of Freiburg, Freiburg, Germany.
authors.forename: Kerstin
authors.initials: K
authors.lastname: Reicherter
authors.forename: Amithkumar Iynapillai
authors.initials: AI
authors.lastname: Veeramani
authors.forename: Sujatha
authors.initials: S
authors.lastname: Jagadeesh
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006580:Genetic Carrier Screening; D006197:Hair / Q000002:abnormalities; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D000081207:Primary Immunodeficiency Diseases; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D016415:Sequence Alignment
chemical_list: C544035:RMRP non-coding RNA, human; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated