Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome.
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DOI: 10.1001/jamaophthalmol.2017.5060
Abstract: Retinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome Poretti-Boltshauser syndrome (PBS) is caused by LAMA1 (laminin1) (OMIM 150320) mutations and manifests with neurologic and ocular abnormalities, including retinal abnormalities previously described… read more here.
Keywords: poretti boltshauser; boltshauser syndrome; neovascularization; lama1 laminin1 ... See more keywords