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Quoted phrase not found in phrase index: "Brittle cornea syndrome 2"
Page 1
Keratoconus in Costello syndrome.
Gripp KW, Demmer LA. Gripp KW, et al. Am J Med Genet A. 2013 May;161A(5):1132-6. doi: 10.1002/ajmg.a.35816. Epub 2013 Mar 13. Am J Med Genet A. 2013. PMID: 23494969
While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, …
While keratoconus is rare in the general population occurring in about 1/2,000 individuals, it is more common in individuals with int …
Use of an onlay corneal lamellar graft for brittle cornea syndrome.
Muthusamy K, Tuft S. Muthusamy K, et al. BMJ Case Rep. 2018 Aug 16;2018:bcr2017223824. doi: 10.1136/bcr-2017-223824. BMJ Case Rep. 2018. PMID: 30115710 Free PMC article.
Brittle cornea syndrome (BCS1 OMIM #229200, BCS2 #614170) is a rare autosomal recessive condition characterised by diffuse thinning and fragility of the cornea. ...In addition, despite the onlay graft, an acute corneal hydrops developed approximately 2 …
Brittle cornea syndrome (BCS1 OMIM #229200, BCS2 #614170) is a rare autosomal recessive condition characterised by diff …
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Lechner J, Porter LF, Rice A, Vitart V, Armstrong DJ, Schorderet DF, Munier FL, Wright AF, Inglehearn CF, Black GC, Simpson DA, Manson F, Willoughby CE. Lechner J, et al. Hum Mol Genet. 2014 Oct 15;23(20):5527-35. doi: 10.1093/hmg/ddu253. Epub 2014 Jun 3. Hum Mol Genet. 2014. PMID: 24895405 Free PMC article.
Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively. BCS is an autosomal recessive generalized connective tissue disorder associated with extreme corneal th …
Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome (BCS) …
Syndrome of brittle cornea, blue sclera, and joint hyperextensibility.
Zlotogora J, BenEzra D, Cohen T, Cohen E. Zlotogora J, et al. Am J Med Genet. 1990 Jul;36(3):269-72. doi: 10.1002/ajmg.1320360303. Am J Med Genet. 1990. PMID: 2363420
In 3 families 4 patients were affected with the syndrome of brittle cornea, blue sclera, and hyperextensible joints (brittle cornea syndrome). From the review of 17 affected patients described previously and our cases, it appears that this rare autosomal rece …
In 3 families 4 patients were affected with the syndrome of brittle cornea, blue sclera, and hyperextensible joints (brittle corne …
Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness.
Lu Y, Dimasi DP, Hysi PG, Hewitt AW, Burdon KP, Toh T, Ruddle JB, Li YJ, Mitchell P, Healey PR, Montgomery GW, Hansell N, Spector TD, Martin NG, Young TL, Hammond CJ, Macgregor S, Craig JE, Mackey DA. Lu Y, et al. PLoS Genet. 2010 May 13;6(5):e1000947. doi: 10.1371/journal.pgen.1000947. PLoS Genet. 2010. PMID: 20485516 Free PMC article.
Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosis of glaucoma and a potential risk factor for glaucoma susceptibility. ...The nearest gene to the associated chromosome 16 SNPs was ZNF469, …
Central corneal thickness (CCT), one of the most highly heritable human traits (h(2) typically>0.9), is important for the diagnosi …
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
Hoehn R, Zeller T, Verhoeven VJ, Grus F, Adler M, Wolfs RC, Uitterlinden AG, Castagne R, Schillert A, Klaver CC, Pfeiffer N, Mirshahi A. Hoehn R, et al. Hum Genet. 2012 Nov;131(11):1783-93. doi: 10.1007/s00439-012-1201-3. Epub 2012 Jul 20. Hum Genet. 2012. PMID: 22814818
ZNF469 missense mutation is involved in a syndrome with very thin cornea (brittle cornea syndrome). The second locus on chromosome 9q34 represents the intergenic region between the RXRA and COL5A1 gene (top SNP: rs3132306, P = 2.71 10(-10)). ...
ZNF469 missense mutation is involved in a syndrome with very thin cornea (brittle cornea syndrome). The second locus on …