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Article

Novel mutation in the choroideremia gene and multi-Mendelian phenotypes in Spanish families.

The British journal of ophthalmology - 1 Oct 2018

de Castro-Miró Marta, Tonda Raul, Marfany Gemma, Casaroli-Marano Ricardo P, Gonzàlez-Duarte Roser

Abstract excerpt

AIMS: We aimed to accurately diagnose several retinitis pigmentosa (RP) patients with complex ocular phenotypes by combining massive sequencing genetic diagnosis and powerful clinical imaging techniques. METHODS: Whole-exome sequencing (WES) of selected patients from two RP families was undertaken. The variants identified were validated by Sanger sequencing and cosegregation analysis. Accurate clinical...

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Source

Identifiers

PMID: 29367200
DOI: 10.1136/bjophthalmol-2017-311427

Genes

CHM
PAX6

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