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| 1 | Camila Xu | + 553 word(s) | 553 | 2020-12-15 07:29:01 |
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Xu, C. Knobloch Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4452 (accessed on 29 September 2026).
Xu C. Knobloch Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4452. Accessed September 29, 2026.
Xu, Camila. "Knobloch Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4452 (accessed September 29, 2026).
Xu, C. (2020, December 23). Knobloch Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4452
Xu, Camila. "Knobloch Syndrome." Encyclopedia. Web. 23 December, 2020.
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Knobloch syndrome is a rare condition characterized by severe vision problems and a skull defect.
genetic conditions
References
- Fukai N, Eklund L, Marneros AG, Oh SP, Keene DR, Tamarkin L, Niemelä M, Ilves M, Li E, Pihlajaniemi T, Olsen BR. Lack of collagen XVIII/endostatin results ineye abnormalities. EMBO J. 2002 Apr 2;21(7):1535-44.
- Passos-Bueno MR, Suzuki OT, Armelin-Correa LM, Sertié AL, Errera FI, Bagatini K, Kok F, Leite KR. Mutations in collagen 18A1 and their relevance to the humanphenotype. An Acad Bras Cienc. 2006 Mar;78(1):123-31.
- Seaver LH, Joffe L, Spark RP, Smith BL, Hoyme HE. Congenital scalp defects andvitreoretinal degeneration: redefining the Knobloch syndrome. Am J Med Genet.1993 Apr 15;46(2):203-8.
- Seppinen L, Pihlajaniemi T. The multiple functions of collagen XVIII indevelopment and disease. Matrix Biol. 2011 Mar;30(2):83-92. doi:10.1016/j.matbio.2010.11.001.
- Sertié AL, Sossi V, Camargo AA, Zatz M, Brahe C, Passos-Bueno MR. CollagenXVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, playsa critical role in the maintenance of retinal structure and in neural tubeclosure (Knobloch syndrome). Hum Mol Genet. 2000 Aug 12;9(13):2051-8.
- Suzuki O, Kague E, Bagatini K, Tu H, Heljasvaara R, Carvalhaes L, Gava E, deOliveira G, Godoi P, Oliva G, Kitten G, Pihlajaniemi T, Passos-Bueno MR. Novelpathogenic mutations and skin biopsy analysis in Knobloch syndrome. Mol Vis.2009;15:801-9.
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