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Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

著者 Nasser F , Weisschuh N , Maffei P , Milan G , Heller C , Zrenner E , Kohl S , Kuehlewein L
Acta Ophthalmol.2017 Nov 30 ; ():.
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We aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone-rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.
PMID: 29193673 [PubMed - as supplied by publisher]
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