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Xu, C. Kniest Dysplasia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4453 (accessed on 29 September 2026).
Xu C. Kniest Dysplasia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4453. Accessed September 29, 2026.
Xu, Camila. "Kniest Dysplasia" Encyclopedia, https://encyclopedia.pub/entry/4453 (accessed September 29, 2026).
Xu, C. (2020, December 23). Kniest Dysplasia. In Encyclopedia. https://encyclopedia.pub/entry/4453
Xu, Camila. "Kniest Dysplasia." Encyclopedia. Web. 23 December, 2020.
Kniest Dysplasia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/kniest-dysplasia

Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.

genetic conditions

References

  1. Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. IndianPediatr. 2007 Dec;44(12):931-3.
  2. Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA,Stratakis CA, Francomano CA, Cohn DH. Small deletions in the type II collagentriple helix produce kniest dysplasia. Am J Med Genet. 1999 Jul 16;85(2):105-12.
  3. Yokoyama T, Nakatani S, Murakami A. A case of Kniest dysplasia with retinaldetachment and the mutation analysis. Am J Ophthalmol. 2003 Dec;136(6):1186-8.
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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 : Camila Xu
View Times: 583
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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