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

Extreme corneal fragility and thinning, which have a high risk of catastrophic spontaneous rupture, are the cardinal features of brittle cornea syndrome (BCS), an autosomal-recessive generalized connective tissue disorder. Enucleation is frequently the only management option for this condition, resu...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3113239/
https://ncbi.nlm.nih.gov/pubmed/21664999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.05.007
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