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Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
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Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
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Journal Article
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome
2015
Overview
More than 20 genes have been linked with infantile-onset retinal dystrophy.1 In 2012, testing of multiple genes in parallel became possible in the NHS clinical setting.2 We tested the proband's DNA for mutations in genes previously associated with retinal dystrophy (appendix) but did not identify disease-causing genetic alterations.
Publisher
Elsevier Ltd,Elsevier Limited
Subject
/ DNA
/ Exome
/ Eye Diseases, Hereditary - diagnosis
/ Eye Diseases, Hereditary - genetics
/ Female
/ High-Throughput Nucleotide Sequencing - methods
/ Humans
/ Infant
/ Kidney Diseases, Cystic - diagnosis
/ Kidney Diseases, Cystic - genetics
/ Leber Congenital Amaurosis - diagnosis
/ Leber Congenital Amaurosis - genetics
/ Male
/ Mutation
/ Optic Atrophies, Hereditary - diagnosis
/ Optic Atrophies, Hereditary - genetics
/ Proteins
/ Retinal Dystrophies - diagnosis
