394:
1809:
331:
1839:
1849:
22:
141:
1829:
1819:
365:, has been identified. The endoribonuclease RNase MRP is a complex of RNA molecule and several proteins and it participates in cleavage of mitochondrial primers responsible for DNA replication and in pre-rRNA processing in the nucleolus. The locus of the gene has been mapped to the short arm of chromosome 9.
381:. This leads to susceptibility to and, in some more severe cases, mortality from infections early in childhood. There has also been detected combined immunodeficiency in some patients. Patients with CHH often have increased predispositions to malignancies.
706:
Hsieh, C. L.; Donlon, T. A.; Darras, B. T.; Chang, D. D.; Topper, J. N.; Clayton, D. A.; Francke, U (1990). "The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4".
521:
Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms".
970:
880:
Saulsbury, F. T.; Winkelstein, J. A.; Davis, L. E.; Hsu, S. H.; d'Souza, B. J.; Gutcher, G. R.; Butler, I. J. (1975). "Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia".
1893:
442:
791:
Sulisalo, T; Sistonen, P; Hästbacka, J; Wadelius, C; Mäkitie, O; de la
Chapelle, A; Kaitila, I (1993). "Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis".
39:
565:
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 (2001).
486:
Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la
Chapelle A, Kaitila L (1997). "Uniparental disomy in cartilage-hair hypoplasia".
1873:
373:
Patients with CHH usually suffer from cellular immunodeficiency. In the study of 108 Finnish patients with CHH, there was detected mild to moderate form of
1338:
1679:
1278:
86:
1883:
667:"Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations"
58:
1578:
744:"Characterization of human MRP/Th RNA and its nuclear gene: Full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP"
65:
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Mäkitie, O; Kaitila, I (1993). "Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients".
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1483:
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567:"Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia"
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from one parent, as opposed to one copy from each parent) has also been observed with the disorder.
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Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD (2008).
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377:, decreased delayed type of hypersensitivity and impaired responses to
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288:
922:"Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders"
443:
List of radiographic findings associated with cutaneous conditions
358:
329:
987:
362:
148:
Cartilage-hair hypoplasia has an autosomal recessive pattern of
1038:
428:
A verified treatment for this disease is yet to be discovered.
350:(a genetic circumstance where a child inherits two copies of a
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15:
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disorder. A rarely encountered genetic phenomenon, known as
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1894:
Noninfectious immunodeficiency-related cutaneous conditions
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920:
Mäkitie, Outi; Kostjukovits, Svetlana (1 January 1993).
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461:
James, William; Berger, Timothy; Elston, Dirk (2005).
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An association between mutations near or within the
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46:. Unsourced material may be challenged and removed.
671:The Journal of Allergy and Clinical Immunology
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321:Defective antibody and cell mediated immunity
258:Defective antibody and cell mediated immunity
8:
1339:Reproductive endocrinology and infertility
1084:
1057:
1043:
1035:
953:
626:"RNase MRP RNA and human genetic diseases"
139:
133:McKusick type metaphyseal chondrodysplasia
120:
1680:Bachelor of Medicine, Bachelor of Surgery
767:
682:
641:
592:
582:
106:Learn how and when to remove this message
481:
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454:
310:Hyperextensible joints of hand and feet
252:Hyperextensible joints of hand and feet
250:Very fine thin light hairs and eyebrows
742:Topper, J. N.; Clayton, D. A. (1990).
928:. University of Washington, Seattle.
7:
1818:
1579:Physical medicine and rehabilitation
275:. Symptoms may include short-limbed
44:adding citations to reliable sources
1874:IUIS-PID table 3 immunodeficiencies
1828:
342:inherited disorder. It is a highly
307:Very fine, light hairs and eyebrows
1715:Medical Scientist Training Program
488:European Journal of Human Genetics
14:
536:10.1034/j.1399-0004.2002.610210.x
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31:needs additional citations for
1705:Doctor of Osteopathic Medicine
1139:Oral and maxillofacial surgery
836:European Journal of Pediatrics
1:
1884:Autosomal recessive disorders
895:10.1016/s0022-3476(75)80216-2
584:10.1016/S0092-8674(01)00205-7
1685:Bachelor of Medical Sciences
1452:Neurosurgical anesthesiology
721:10.1016/0888-7543(90)90483-b
438:List of cutaneous conditions
291:. It was first reported by
55:"Cartilage–hair hypoplasia"
1915:
684:10.1016/j.jaci.2008.07.036
1803:
883:The Journal of Pediatrics
265:Cartilage–hair hypoplasia
147:
138:
124:Cartilage-hair hypoplasia
1639:Transplantation medicine
1530:Clinical neurophysiology
1447:Obstetric anesthesiology
1367:Interventional radiology
1127:Digestive system surgery
624:Martin AN, Li Y (2007).
361:component of RNase MRP,
287:, and predisposition to
1510:Intensive care medicine
1484:Mass gathering medicine
1329:Maternal–fetal medicine
1899:Rare genetic syndromes
1102:Cardiothoracic surgery
748:Nucleic Acids Research
465:(10th ed.). Saunders.
401:This section is empty.
335:
313:Abnormalities of spine
254:Abnormalities of spine
1753:Personalized medicine
1612:Reproductive medicine
1537:Occupational medicine
1491:Evolutionary medicine
643:10.1038/sj.cr.7310120
333:
1773:Traditional medicine
1733:Alternative medicine
1600:Addiction psychiatry
1414:Transfusion medicine
1409:Medical microbiology
1324:Gynecologic oncology
1176:Reproductive surgery
760:10.1093/nar/18.4.793
283:, variable level of
40:improve this article
1795:History of medicine
1778:Veterinary medicine
1585:Preventive medicine
1437:Adolescent medicine
1279:Infectious diseases
340:autosomal recessive
304:Short limb dwarfism
248:Short limb dwarfism
1743:Molecular oncology
1700:Doctor of Medicine
1690:Master of Medicine
1607:Radiation oncology
1479:Emergency medicine
1432:Addiction medicine
1399:Clinical chemistry
1394:Clinical pathology
1186:Transplant surgery
1144:Orthopedic surgery
1122:Colorectal surgery
1009:External resources
848:10.1007/bf01956147
805:10.1038/ng0493-338
379:phytohemagglutinin
348:uniparental disomy
336:
334:Phytohemagglutinin
299:Signs and symptoms
281:skeletal dysplasia
1861:
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1695:Master of Surgery
1659:
1658:
1644:Tropical medicine
1590:Prison healthcare
1505:Hospital medicine
1469:Disaster medicine
1459:Aviation medicine
1274:Hospital medicine
1181:Surgical oncology
1166:Pediatric surgery
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1107:Endocrine surgery
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524:Clinical Genetics
500:10.1159/000484729
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1377:Nuclear medicine
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369:Immunodeficiency
285:immunodeficiency
273:genetic disorder
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1788:Chief physician
1721:
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1649:Travel medicine
1634:Sports medicine
1617:Sexual medicine
1557:Palliative care
1552:Pain management
1496:Family medicine
1474:Diving medicine
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1171:Plastic surgery
1117:General surgery
1097:Cardiac surgery
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799:(4): 338–341.
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1889:Ribosomopathy
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1404:Cytopathology
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1344:Urogynecology
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1272:
1270:
1267:
1265:
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1254:
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1247:Endocrinology
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1199:
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948:
935:
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918:
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900:
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892:
889:(6): 868–72.
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1622:Venereology
1567:Neonatology
1464:Dermatology
1319:Gynaecology
1311:gynaecology
1294:Pulmonology
1112:Eye surgery
1074:Specialties
926:GeneReviews
594:2066/185709
375:lymphopenia
344:pleiotropic
317:Neutropenia
256:Neutropenia
150:inheritance
129:Other names
1868:Categories
1595:Psychiatry
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1574:Phlebology
1562:Pediatrics
1389:Anatomical
1354:Diagnostic
1334:Obstetrics
1284:Nephrology
1269:Hematology
1264:Geriatrics
1257:Hepatology
1242:Cardiology
1232:Immunology
449:References
352:chromosome
338:CHH is an
192: ...
66:newspapers
1783:Physician
1667:education
1525:Neurology
1520:Narcology
1384:Pathology
1362:Radiology
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1201:Andrology
424:Treatment
385:Diagnosis
295:in 1965.
1813:Category
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432:See also
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326:Genetics
277:dwarfism
244:Symptoms
96:May 2018
1853:Outline
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1768:Therapy
1665:Medical
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1196:Urology
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