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[[Image:autorecessive.svg|thumb|right|Autozomálně-recesivní vzorec dědičnosti CHH.]]
Byla pozorována asociace mezi mutací lokusu, ve kterém leží gen pro [[ncRNA]] komponentu RNázy MRP, [[RMRP]].<ref name="pmid11940090">{{cite journal |author=Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A |title=RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms |journal=Clin. Genet. |volume=61 |issue=2 |pages=146–51 |date=February 2002 |pmid=11940090 |doi=10.1034/j.1399-0004.2002.610210.x |url=http://wwwdoi.blackwell-synergyorg/10.com1034/openurl?genre=article&sid=nlm:pubmed&issn=0009j.1399-9163&date=0004.2002&volume=61&issue=2&spage=146 .610210.x}}</ref><ref name="pmid11207361">{{cite journal |author=Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A |title=Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. |journal=Cell |volume=104 |issue=2 |pages=195–203 |year=2001 |pmid=11207361 |doi=10.1016/S0092-8674(01)00205-7}}</ref><ref name="pmid17189938">{{cite journal |author=Martin AN, Li Y |title=RNase MRP RNA and human genetic diseases. |journal=Cell Res |volume=17 |issue=3 |pages=219–26 |year=2007 |pmid=17189938 |doi=10.1038/sj.cr.7310120}}</ref><ref name="pmid18804272">{{cite journal |author=Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD |title=Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. |journal=The Journal of Allergy and Clinical Immunology |volume=122 |issue=6 |pages=1178–84 |year=2008 |pmid=18804272 |doi=10.1016/j.jaci.2008.07.036}}</ref>. Endoribonukleáza RNáza MRP je komplex RNA molekuly a několika proteinů a účastní se na štěpení mitochondriálních primerů zodpovědných za replikaci mitochondriální DNA, její další identifikovanou funkcí je zpracování pre-rRNA v jadérku. <ref>C.L. Hsieh, T.A. Donlon, B.T. Darras, D.D. Chang, J.N. Topper, D.A. Clayton, U. Francke
The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4
Genomics, 6 (1990), pp. 540–544</ref><ref>J.N. Topper, D.A. Clayton
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