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Yang, C. Cartilage-Hair Hypoplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/5193 (accessed on 22 September 2026).
Yang C. Cartilage-Hair Hypoplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/5193. Accessed September 22, 2026.
Yang, Catherine. "Cartilage-Hair Hypoplasia" Encyclopedia, https://encyclopedia.pub/entry/5193 (accessed September 22, 2026).
Yang, C. (2020, December 24). Cartilage-Hair Hypoplasia. In Encyclopedia. https://encyclopedia.pub/entry/5193
Yang, Catherine. "Cartilage-Hair Hypoplasia." Encyclopedia. Web. 24 December, 2020.
Cartilage-Hair Hypoplasia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.

genetic conditions

References

  1. Ganapathi KA, Shimamura A. Ribosomal dysfunction and inherited marrow failure.Br J Haematol. 2008 May;141(3):376-87. doi: 10.1111/j.1365-2141.2008.07095.x.Review.
  2. Kwan A, Manning MA, Zollars LK, Hoyme HE. Marked variability in theradiographic features of cartilage-hair hypoplasia: case report and review of theliterature. Am J Med Genet A. 2012 Nov;158A(11):2911-6. doi:10.1002/ajmg.a.35604.
  3. Martin AN, Li Y. RNase MRP RNA and human genetic diseases. Cell Res. 2007Mar;17(3):219-26. Review.
  4. Matesic D, Hagan JB. Cartilage-hair hypoplasia. Mayo Clin Proc. 2007Jun;82(6):655.
  5. Mattijssen S, Welting TJ, Pruijn GJ. RNase MRP and disease. Wiley Interdiscip Rev RNA. 2010 Jul-Aug;1(1):102-16. doi: 10.1002/wrna.9.
  6. Nakashima E, Tran JR, Welting TJ, Pruijn GJ, Hirose Y, Nishimura G, Ohashi H, Schurman SH, Cheng J, Candotti F, Nagaraja R, Ikegawa S, Schlessinger D.Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency orRNA transcript instability. Am J Med Genet A. 2007 Nov 15;143A(22):2675-81.
  7. Notarangelo LD, Roifman CM, Giliani S. Cartilage-hair hypoplasia: molecularbasis and heterogeneity of the immunological phenotype. Curr Opin Allergy ClinImmunol. 2008 Dec;8(6):534-9. doi: 10.1097/ACI.0b013e328310fe7d. Review.
  8. Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A. Type and level of RMRPfunctional impairment predicts phenotype in the cartilage hairhypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet. 2007 Sep;81(3):519-29.
  9. Thiel CT, Rauch A. The molecular basis of the cartilage-hairhypoplasia-anauxetic dysplasia spectrum. Best Pract Res Clin Endocrinol Metab.2011 Feb;25(1):131-42. doi: 10.1016/j.beem.2010.08.004. Review.
  10. Welting TJ, Mattijssen S, Peters FM, van Doorn NL, Dekkers L, van Venrooij WJ,Heus HA, Bonafé L, Pruijn GJ. Cartilage-hair hypoplasia-associated mutations inthe RNase MRP P3 domain affect RNA folding and ribonucleoprotein assembly.Biochim Biophys Acta. 2008 Mar;1783(3):455-66. doi: 10.1016/j.bbamcr.2007.11.016.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 868
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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