A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis

Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular...

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Bibliographische Detailangaben
Hauptverfasser: Ahram, Dina, Sato, T. Shawn, Kohilan, Abdulghani, Tayeh, Marwan, Chen, Shan, Leal, Suzanne, Al-Salem, Mahmoud, El-Shanti, Hatem
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2009
Schlagworte:
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668005/
https://ncbi.nlm.nih.gov/pubmed/19200529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.01.007
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