Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

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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Bibliographic Details
Main Authors: Alireza Haghighi, Amit Tiwari, Niloofar Piri, Gudrun Nürnberg, Nasrollah Saleh-Gohari, Amirreza Haghighi, John Neidhardt, Peter Nürnberg, Wolfgang Berger
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4231049?pdf=render

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http://europepmc.org/articles/PMC4231049?pdf=render

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