Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance-Reference-Cited by-同舟云学术

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Published:2011-06 Issue:6 Volume:88 Page:767-777
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Burkitt Wright Emma M.M.,Spencer Helen L.,Daly Sarah B.,Manson Forbes D.C.,Zeef Leo A.H.,Urquhart Jill,Zoppi Nicoletta,Bonshek Richard,Tosounidis Ioannis,Mohan Meyyammai,Madden Colm,Dodds Annabel,Chandler Kate E.,Banka Siddharth,Au Leon,Clayton-Smith Jill,Khan Naz,Biesecker Leslie G.,Wilson Meredith,Rohrbach Marianne,Colombi Marina,Giunta Cecilia,Black Graeme C.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

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2. Bilateral spontaneous corneal rupture in brittle cornea syndrome: A case report;Izquierdo;Cornea,1999

3. Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene;Christensen;Invest. Ophthalmol. Vis. Sci.,2010

4. Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome;Abu;Am. J. Hum. Genet.,2008

5. Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X);Khan;Arch. Ophthalmol.,2010

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