Early posterior vitreous detachment is associated with LAMA5 dominant mutation-Reference-Cited by-同舟云学术

Early posterior vitreous detachment is associated with LAMA5 dominant mutation

Published:2018-12-27 Issue:1 Volume:40 Page:39-42
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Napolitano Filomena¹²,Di Iorio Valentina³,Di Iorio Giuseppe¹,Melone Mariarosa Anna Beatrice¹⁴^ORCID,Gianfrancesco Fernando²,Simonelli Francesca³^ORCID,Esposito Teresa²⁵^ORCID,Testa Francesco³,Sampaolo Simone¹

Affiliation:

1. Neurology Clinic II, Department of Medical Sciences, Surgery, Neurology, Metabolic Diseases and Geriatrics, University of Campania Luigi Vanvitelli, Naples, Italy

2. Institute of Genetics and Biophysics “Adriano Buzzati-Traverso”, National Research Council, Naples, Italy

3. Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy

4. Sbarro Institute for Cancer Research and Molecular Medicine, Department of Biology, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA

5. IRCCS INM Neuromed, Pozzilli, IS, Italy

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2018.1558261

Reference28 articles.

1. Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix

2. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

3. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery

4. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

5. Autosomal-dominant myopia associated to a novelP4HA2missense variant and defective collagen hydroxylation

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