Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome

BACKGROUND: Brittle cornea syndrome (BCS) is a rare, generalized connective tissue disorder associated with extreme corneal thinning and a high risk of corneal rupture. Recessive mutations in transcription factors ZNF469 and PRDM5 cause BCS. Both transcription factors are suggested to act on a commo...

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Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: Porter, Louise F., Gallego-Pinazo, Roberto, Keeling, Catherine L., Kamieniorz, Martyna, Zoppi, Nicoletta, Colombi, Marina, Giunta, Cecilia, Bonshek, Richard, Manson, Forbes D., Black, Graeme C.
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4642625/
https://ncbi.nlm.nih.gov/pubmed/26560304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0360-4
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