Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.
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Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).
Khan AO, Aldahmesh MA, Mohamed JN et al. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). Arch Ophthalmol 2010: 128: 1376-1379.
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
Burkitt Wright EM, Spencer HL, Daly SB et al. Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. Am J Hum Genet 2011: 88: 767-777.
The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development.
Meani N, Pezzimenti F, Deflorian G et al. The tumor suppressor PRDM5 regulates Wnt signaling at early stages of zebrafish development. PLoS One 2009: 4: e4273.