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Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

The aim of this study was to identify the genetic basis of a chorioretinal dystrophy with high myopia of unknown origin in a child of a consanguineous marriage. The proband and ten family members of Iranian ancestry participated in this study. Linkage analysis was carried out with DNA samples of the...

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Detalles Bibliográficos
Autores principales:	Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231049/ https://www.ncbi.nlm.nih.gov/pubmed/25392994 http://dx.doi.org/10.1371/journal.pone.0112747

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