Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene-Reference-Cited by-同舟云学术

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

Published:2017-11-30 Issue:4 Volume:96 Page:e445-e454
ISSN:1755-375X
Container-title:Acta Ophthalmologica
language:en
Short-container-title:Acta Ophthalmol

Author:

Nasser Fadi¹^ORCID,Weisschuh Nicole²,Maffei Pietro³,Milan Gabriella³,Heller Corina⁴,Zrenner Eberhart¹⁵,Kohl Susanne²,Kuehlewein Laura¹

Affiliation:

1. Institute for Ophthalmic Research; Centre for Ophthalmology; Eberhard Karls University; Tuebingen Germany

2. Molecular Genetics Laboratory; Institute for Ophthalmic Research; Centre for Ophthalmology; Eberhard Karls University; Tuebingen Germany

3. Department of Medicine (DIMED); University of Padua; Padua Italy

4. CeGaT GmbH and Praxis fuer Humangenetik Tuebingen; Tuebingen Germany

5. Werner Reichardt Centre for Integrative Neuroscience (CIN); Tuebingen Germany

Publisher

Wiley

Subject

Ophthalmology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/aos.13612/fullpdf

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3. Homozygosity mapping at Alström syndrome to chromosome 2p;Collin;Hum Mol Genet,1997

4. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome;Collin;Nat Genet,2002

5. Alms1-disrupted mice recapitulate human Alström syndrome;Collin;Hum Mol Genet,2005

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