{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:52:14Z","timestamp":1790974334117,"version":"4.1.0"},"reference-count":81,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2011,2,1]],"date-time":"2011-02-01T00:00:00Z","timestamp":1296518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2011,2,1]],"date-time":"2011-02-01T00:00:00Z","timestamp":1296518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"published-print":{"date-parts":[[2011,2]]},"DOI":"10.1016\/j.beem.2010.08.004","type":"journal-article","created":{"date-parts":[[2011,3,16]],"date-time":"2011-03-16T15:41:13Z","timestamp":1300290073000},"page":"131-142","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":48,"title":["The molecular basis of the cartilage-hair hypoplasia\u2013anauxetic dysplasia spectrum"],"prefix":"10.1016","volume":"25","author":[{"given":"Christian T.","family":"Thiel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31483","article-title":"Nosology and classification of genetic skeletal disorders: 2006 revision","volume":"143","author":"Superti-Furga","year":"2007","journal-title":"American journal of Medical Genetics. Part A"},{"key":"10.1016\/j.beem.2010.08.004_bib2","first-page":"285","article-title":"Dwarfism in the Amish. II. Cartilage-air hypoplasia","volume":"116","author":"McKusick","year":"1965","journal-title":"Bulletin of the Johns Hopkins Hospital"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib3","first-page":"109","article-title":"Hereditary diseases in Finland; rare flora in rare soul","volume":"5","author":"Norio","year":"1973","journal-title":"Annals of Clinical Research"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib4","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1007\/BF02387549","article-title":"Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature","volume":"18","author":"Lachman","year":"1988","journal-title":"Pediatric Radiology"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib5","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1007\/BF01956147","article-title":"Cartilage-hair hypoplasia \u2013 clinical manifestations in 108 Finnish patients","volume":"152","author":"Makitie","year":"1993","journal-title":"European Journal of Pediatrics"},{"issue":"9","key":"10.1016\/j.beem.2010.08.004_bib6","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1136\/jmg.29.9.652","article-title":"Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients","volume":"29","author":"Makitie","year":"1992","journal-title":"Journal of Medical Genetics"},{"issue":"10","key":"10.1016\/j.beem.2010.08.004_bib7","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1007\/s004310050943","article-title":"Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia","volume":"157","author":"Makitie","year":"1998","journal-title":"European Journal of Pediatrics"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib8","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1111\/j.1365-2249.1995.tb06628.x","article-title":"Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID)","volume":"102","author":"Castigli","year":"1995","journal-title":"Clinical and Experimental Immunology"},{"issue":"12","key":"10.1016\/j.beem.2010.08.004_bib9","first-page":"1026","article-title":"Anaemia and macrocytosis \u2013 unrecognized features in cartilage-hair hypoplasia","volume":"81","author":"Makitie","year":"1992","journal-title":"Acta\u00a0Paediatrica"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib10","first-page":"563","article-title":"Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system","volume":"85","author":"Makitie","year":"2000","journal-title":"The Journal of Clinical Endocrinology and Metabolism"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib11","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1002\/ajmg.1320410320","article-title":"Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature","volume":"41","author":"van der Burgt","year":"1991","journal-title":"American Journal of Medical Genetics"},{"issue":"18","key":"10.1016\/j.beem.2010.08.004_bib12","doi-asserted-by":"crossref","first-page":"2370","DOI":"10.1002\/ajmg.a.32478","article-title":"Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma","volume":"146A","author":"Taskinen","year":"2008","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib13","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/S0022-3476(99)70456-7","article-title":"Increased incidence of cancer in patients with cartilage-hair hypoplasia","volume":"134","author":"Makitie","year":"1999","journal-title":"The Journal of Pediatrics"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib14","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1093\/milmed\/149.5.280","article-title":"Hodgkin's lymphoma in a child with cartilage-hair hypoplasia: case report","volume":"149","author":"Roberts","year":"1984","journal-title":"Military Medicine"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib15","first-page":"937","article-title":"High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene","volume":"55","author":"Sulisalo","year":"1994","journal-title":"American Journal of Human Genetics"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib16","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1006\/geno.1994.1187","article-title":"High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families","volume":"20","author":"Sulisalo","year":"1994","journal-title":"Genomics"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib17","first-page":"338","article-title":"Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis","volume":"3","author":"Sulisalo","year":"1993","journal-title":"Nature\u00a0Genetics"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib18","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0092-8674(01)00205-7","article-title":"Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia","volume":"104","author":"Ridanpaa","year":"2001","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib19","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmg.38.4.262","article-title":"Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism","volume":"38","author":"Horn","year":"2001","journal-title":"Journal of Medical Genetics"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib20","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1086\/497708","article-title":"Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator","volume":"77","author":"Thiel","year":"2005","journal-title":"American Journal of Human Genetics"},{"issue":"19","key":"10.1016\/j.beem.2010.08.004_bib21","doi-asserted-by":"crossref","first-page":"2121","DOI":"10.1002\/ajmg.a.31331","article-title":"RMRP mutations in cartilage-hair hypoplasia","volume":"140","author":"Hermanns","year":"2006","journal-title":"American Journal of Medical Genetics. Part\u00a0A"},{"issue":"23","key":"10.1016\/j.beem.2010.08.004_bib22","doi-asserted-by":"crossref","first-page":"3723","DOI":"10.1093\/hmg\/ddi403","article-title":"Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia","volume":"14","author":"Hermanns","year":"2005","journal-title":"Human Molecular Genetics"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib23","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1034\/j.1399-0004.2002.610210.x","article-title":"RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms","volume":"61","author":"Bonafe","year":"2002","journal-title":"Clinical Genetics"},{"issue":"10","key":"10.1016\/j.beem.2010.08.004_bib24","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1136\/jmg.40.10.761","article-title":"Short-limbed dwarfism with bowing, combined immune deficiency, and late onset aplastic anaemia caused by novel mutations in the RMPR gene","volume":"40","author":"Kuijpers","year":"2003","journal-title":"Journal of Medical Genetics"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib25","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1034\/j.1399-0004.2000.580510.x","article-title":"Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia","volume":"58","author":"Prasad","year":"2000","journal-title":"Clinical Genetics"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib26","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1016\/j.jaci.2006.01.003","article-title":"Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome","volume":"117","author":"Roifman","year":"2006","journal-title":"The Journal of Allergy and Clinical Immunology"},{"issue":"15","key":"10.1016\/j.beem.2010.08.004_bib27","doi-asserted-by":"crossref","first-page":"2013","DOI":"10.1002\/ajmg.a.32406","article-title":"Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia","volume":"146A","author":"Baradaran-Heravi","year":"2008","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib28","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1203\/00006450-199202000-00018","article-title":"Growth in cartilage-hair hypoplasia","volume":"31","author":"Makitie","year":"1992","journal-title":"Pediatric Research"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib29","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1136\/jmg.32.1.39","article-title":"Cartilage-hair hypoplasia","volume":"32","author":"Makitie","year":"1995","journal-title":"Journal of Medical Genetics"},{"issue":"8","key":"10.1016\/j.beem.2010.08.004_bib30","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1177\/003591577206500829","article-title":"Metaphyseal dysplasia in siblings: a variant of cartilage-hair hypoplasia","volume":"65","author":"Savage","year":"1972","journal-title":"Proceedings of the Royal Society of Medicine"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib31","first-page":"74","article-title":"Cartilage-hair hypoplasia","volume":"176","author":"Wiedemann","year":"1967","journal-title":"Archiv fuer Kinderheilkunde"},{"key":"10.1016\/j.beem.2010.08.004_bib32","series-title":"Bone dysplasias. an atlas of genetic disorders of skeletal development","author":"Spranger","year":"2002"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib33","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1159\/000252497","article-title":"Abnormality of the hair in cartilage-hair hypoplasia","volume":"141","author":"Coupe","year":"1970","journal-title":"Dermatologica"},{"issue":"12","key":"10.1016\/j.beem.2010.08.004_bib34","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1007\/BF01955006","article-title":"Cartilage hair hypoplasia in infancy: a misleading chondrodysplasia","volume":"150","author":"Le Merrer","year":"1991","journal-title":"European Journal of Pediatrics"},{"issue":"6","key":"10.1016\/j.beem.2010.08.004_bib35","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1007\/BF02013505","article-title":"Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients","volume":"22","author":"Makitie","year":"1992","journal-title":"Pediatric Radiology"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib36","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/978-3-662-38563-0_37","article-title":"Metaphyseal chondrodysplasia of the McKusick type (cartilage-hair hypoplasia)","volume":"128","author":"Seige","year":"1980","journal-title":"Monatsschrift Kinderheilkunde"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib37","first-page":"159","article-title":"McKusick's dwarfism and resistant Hodgkin's disease","volume":"84","author":"Hensley","year":"1984","journal-title":"The Journal of the American Osteopathic Association"},{"issue":"6","key":"10.1016\/j.beem.2010.08.004_bib38","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1097\/00043426-200406000-00009","article-title":"Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia","volume":"26","author":"Ammann","year":"2004","journal-title":"Journal of Pediatric Hematology\/oncology"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib39","doi-asserted-by":"crossref","first-page":"926","DOI":"10.1148\/86.5.926","article-title":"Cartilage-hair hypoplasia (CHH) variant of familial metaphyseal dysostosis","volume":"86","author":"Irwin","year":"1966","journal-title":"Radiology"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib40","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1007\/BF01972969","article-title":"Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia","volume":"154","author":"Juvonen","year":"1995","journal-title":"European Journal of Pediatrics"},{"issue":"6","key":"10.1016\/j.beem.2010.08.004_bib41","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1097\/ACI.0b013e328310fe7d","article-title":"Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype","volume":"8","author":"Notarangelo","year":"2008","journal-title":"Current Opinion in Allergy and Clinical Immunology"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib42","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1016\/0090-1229(86)90071-1","article-title":"Cartilage hair hypoplasia: immunological aspects and their clinical implications","volume":"40","author":"Polmar","year":"1986","journal-title":"Clinical Immunology and Immunopathology"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib43","first-page":"352","article-title":"In vitro T- and B-cell reactivity in cartilage hair hypoplasia","volume":"32","author":"Ranki","year":"1978","journal-title":"Clinical and Experimental Immunology"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib44","first-page":"157","article-title":"Immunologic studies of cartilage-hair hypoplasia in the Amish","volume":"148","author":"Trojak","year":"1981","journal-title":"Johns Hopkins Medical Journal"},{"issue":"10","key":"10.1016\/j.beem.2010.08.004_bib45","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1203\/00006450-197810000-00002","article-title":"Cellular and humoral immmunity in cartilage-hair hypoplasia","volume":"12","author":"Virolainen","year":"1978","journal-title":"Pediatric Research"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib46","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1002\/ajmg.a.30902","article-title":"The natural history of severe anemia in cartilage-hair hypoplasia","volume":"138","author":"Williams","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"6","key":"10.1016\/j.beem.2010.08.004_bib47","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1067\/mpd.2001.113632","article-title":"Hirschsprung disease associated with severe cartilage-hair hypoplasia","volume":"138","author":"Makitie","year":"2001","journal-title":"The Journal of Pediatrics"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib48","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1056\/NEJM197001292820501","article-title":"Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia","volume":"282","author":"Lux","year":"1970","journal-title":"The New England Journal of Medicine"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib49","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1002\/jmv.1890240410","article-title":"Chronic enteric virus infection in two T-cell immunodeficient children","volume":"24","author":"Wood","year":"1988","journal-title":"Journal of Medical Virology"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib50","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<80::AID-AJMG16>3.0.CO;2-Q","article-title":"An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature","volume":"63","author":"Menger","year":"1996","journal-title":"American Journal of Medical Genetics"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib51","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1086\/521034","article-title":"Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia\u2013anauxetic dysplasia spectrum","volume":"81","author":"Thiel","year":"2007","journal-title":"American Journal of Human Genetics"},{"issue":"7","key":"10.1016\/j.beem.2010.08.004_bib52","doi-asserted-by":"crossref","first-page":"2138","DOI":"10.1093\/nar\/gkh539","article-title":"Mutual interactions between subunits of the human RNase MRP ribonucleoprotein complex","volume":"32","author":"Welting","year":"2004","journal-title":"Nucleic Acids Research"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib53","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1038\/sj.cr.7310120","article-title":"RNase MRP RNA and human genetic diseases","volume":"17","author":"Martin","year":"2007","journal-title":"Cell Research"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib54","first-page":"409","article-title":"A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication","volume":"6","author":"Chang","year":"1987","journal-title":"The\u00a0EMBO Journal"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib55","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.bbamcr.2007.11.016","article-title":"Cartilage-hair hypoplasia-associated mutations in the RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly","volume":"1783","author":"Welting","year":"2008","journal-title":"Biochimica et Biophysica Acta"},{"issue":"20","key":"10.1016\/j.beem.2010.08.004_bib56","doi-asserted-by":"crossref","first-page":"2593","DOI":"10.1101\/gad.1018902","article-title":"Recruitment of RNA polymerase III to its target promoters","volume":"16","author":"Schramm","year":"2002","journal-title":"Genes & Development"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib57","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1371\/journal.pgen.0010047","article-title":"Evolutionary comparison provides evidence for pathogenicity of RMRP mutations","volume":"1","author":"Bonafe","year":"2005","journal-title":"PLoS Genetics"},{"issue":"8","key":"10.1016\/j.beem.2010.08.004_bib58","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1007\/s10038-006-0015-3","article-title":"Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia","volume":"51","author":"Hirose","year":"2006","journal-title":"Journal of Human Genetics"},{"issue":"11","key":"10.1016\/j.beem.2010.08.004_bib59","doi-asserted-by":"crossref","first-page":"1018","DOI":"10.1002\/pd.1547","article-title":"Metaphyseal chondrodysplasia McKusick type in a Chinese fetus, caused by novel compound heterozygosity 64T> A and 79G >T in RMRP gene","volume":"26","author":"Lam","year":"2006","journal-title":"Prenatal Diagnosis"},{"issue":"9","key":"10.1016\/j.beem.2010.08.004_bib60","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.imbio.2006.05.001","article-title":"A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia","volume":"211","author":"Munoz-Robles","year":"2006","journal-title":"Immunobiology"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib61","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/ajmg.a.20281","article-title":"RMRP mutations in Japanese patients with cartilage-hair hypoplasia","volume":"123","author":"Nakashima","year":"2003","journal-title":"Am J Med Genet A"},{"issue":"7","key":"10.1016\/j.beem.2010.08.004_bib62","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/sj.ejhg.5200824","article-title":"Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A\u2192G mutation of the untranslated RMRP","volume":"10","author":"Ridanpaa","year":"2002","journal-title":"European Journal of Human Genetics"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib63","first-page":"493","article-title":"Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia","volume":"51","author":"Turkkani-Asal","year":"2009","journal-title":"The Turkish Journal of Pediatrics"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib64","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.jpeds.2007.11.040","article-title":"Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis","volume":"152","author":"Toiviainen-Salo","year":"2008","journal-title":"The Journal of Pediatrics"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib65","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1515\/JPEM.2008.21.3.209","article-title":"Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia","volume":"21","author":"Conwell","year":"2008","journal-title":"Journal of Pediatric Endocrinology & Metabolism"},{"issue":"22","key":"10.1016\/j.beem.2010.08.004_bib66","doi-asserted-by":"crossref","first-page":"2675","DOI":"10.1002\/ajmg.a.32053","article-title":"Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability","volume":"143A","author":"Nakashima","year":"2007","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib67","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1128\/MCB.24.3.945-953.2004","article-title":"RNase MRP cleaves the CLB2 mRNA to promote cell cycle progression: novel method of mRNA degradation","volume":"24","author":"Gill","year":"2004","journal-title":"Molecular and Cellular Biology"},{"issue":"12","key":"10.1016\/j.beem.2010.08.004_bib68","first-page":"7935","article-title":"Nuclear RNase MRP is required for correct processing of pre-5.8S rRNA in Saccharomyces cerevisiae","volume":"13","author":"Schmitt","year":"1993","journal-title":"Molecular and Cellular Biology"},{"issue":"10","key":"10.1016\/j.beem.2010.08.004_bib69","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1002\/j.1460-2075.1994.tb06530.x","article-title":"The 5' end of yeast 5.8S rRNA is generated by exonucleases from an upstream cleavage site","volume":"13","author":"Henry","year":"1994","journal-title":"The EMBO Journal"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib70","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/S0378-1119(00)00013-5","article-title":"Mutational analysis of the RNA component of Saccharomyces cerevisiae RNase MRP reveals distinct nuclear phenotypes","volume":"245","author":"Shadel","year":"2000","journal-title":"Gene"},{"issue":"2","key":"10.1016\/j.beem.2010.08.004_bib71","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1128\/MCB.23.2.699-707.2003","article-title":"Autoregulation in the biosynthesis of ribosomes","volume":"23","author":"Zhao","year":"2003","journal-title":"Molecular and Cellular Biology"},{"issue":"5","key":"10.1016\/j.beem.2010.08.004_bib72","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1101\/gad.11.5.582","article-title":"RNase mitochondrial RNA processing correctly cleaves a novel R loop at the mitochondrial DNA leading-strand origin of replication","volume":"11","author":"Lee","year":"1997","journal-title":"Genes & Development"},{"issue":"3","key":"10.1016\/j.beem.2010.08.004_bib73","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1093\/genetics\/161.3.1029","article-title":"The Saccharomyces cerevisiae RNase mitochondrial RNA processing is critical for cell cycle progression at the end of mitosis","volume":"161","author":"Cai","year":"2002","journal-title":"Genetics"},{"issue":"7261","key":"10.1016\/j.beem.2010.08.004_bib74","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/nature08283","article-title":"An RNA-dependent RNA polymerase formed by TERT and the RMRP RNA","volume":"461","author":"Maida","year":"2009","journal-title":"Nature"},{"issue":"9","key":"10.1016\/j.beem.2010.08.004_bib75","doi-asserted-by":"crossref","first-page":"4446","DOI":"10.1182\/blood-2007-08-019729","article-title":"Telomere maintenance and human bone marrow failure","volume":"111","author":"Calado","year":"2008","journal-title":"Blood"},{"issue":"12","key":"10.1016\/j.beem.2010.08.004_bib76","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1017\/S1355838200001461","article-title":"Phylogenetic-comparative analysis of the eukaryal ribonuclease P RNA","volume":"6","author":"Frank","year":"2000","journal-title":"RNA"},{"issue":"4","key":"10.1016\/j.beem.2010.08.004_bib77","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1017\/S1355838299982079","article-title":"RNA\u2013protein interactions in the human RNase MRP ribonucleoprotein complex","volume":"5","author":"Pluk","year":"1999","journal-title":"RNA"},{"issue":"6","key":"10.1016\/j.beem.2010.08.004_bib78","doi-asserted-by":"crossref","first-page":"1178","DOI":"10.1016\/j.jaci.2008.07.036","article-title":"Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations","volume":"122","author":"Kavadas","year":"2008","journal-title":"The Journal of Allergy and Clinical Immunology"},{"issue":"12","key":"10.1016\/j.beem.2010.08.004_bib79","doi-asserted-by":"crossref","first-page":"2449","DOI":"10.1007\/s00467-009-1256-0","article-title":"Autoimmune hypoparathyroidism in a 12-year-old girl with McKusick cartilage hair hypoplasia","volume":"24","author":"Bacchetta","year":"2009","journal-title":"Pediatric Nephrology"},{"issue":"1","key":"10.1016\/j.beem.2010.08.004_bib80","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.clim.2008.11.001","article-title":"Immunologic and clinical features of 25 Amish patients with RMRP 70 A\u2192G cartilage hair hypoplasia","volume":"131","author":"Rider","year":"2009","journal-title":"Clinical Immunology"},{"issue":"6","key":"10.1016\/j.beem.2010.08.004_bib81","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1016\/j.jaci.2009.02.036","article-title":"Cartilage-hair hypoplasia and severe allergy","volume":"123","author":"Narra","year":"2009","journal-title":"The Journal of Allergy and Clinical Immunology"}],"container-title":["Best Practice &amp; Research Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X10000783?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521690X10000783?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:43:59Z","timestamp":1761497039000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521690X10000783"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2]]},"references-count":81,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,2]]}},"alternative-id":["S1521690X10000783"],"URL":"https:\/\/doi.org\/10.1016\/j.beem.2010.08.004","relation":{},"ISSN":["1521-690X"],"issn-type":[{"value":"1521-690X","type":"print"}],"subject":[],"published":{"date-parts":[[2011,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"The molecular basis of the cartilage-hair hypoplasia\u2013anauxetic dysplasia spectrum","name":"articletitle","label":"Article Title"},{"value":"Best Practice & Research Clinical Endocrinology & Metabolism","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.beem.2010.08.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2010 Elsevier Ltd. All rights reserved.","name":"copyright","label":"Copyright"}]}}