Clinical utility gene card for: Aniridia

Rose Richardson; Melanie Hingorani; Veronica Van Heyningen; Cheryl Gregory-Evans; Mariya Moosajee

doi:10.1038/ejhg.2016.73

Clinical utility gene card for: Aniridia

Rose Richardson, Melanie Hingorani, Veronica Van Heyningen, Cheryl Gregory-Evans, Mariya Moosajee

Division of Neuroscience

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	European journal of human genetics : EJHG
Volume	24
Issue number	11
DOIs	https://doi.org/10.1038/ejhg.2016.73
Publication status	Published - Nov 2016

Keywords

Aniridia/diagnosis
Cost-Benefit Analysis
Genetic Testing
Genotype
Humans
Mutation
Nerve Tissue Proteins/genetics
PAX6 Transcription Factor/genetics
Pathology, Molecular
Risk Assessment
Sensitivity and Specificity

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/ejhg.2016.73

Cite this

@article{9c189c630bdf4bbdb43b99f6d3912ac6,

title = "Clinical utility gene card for: Aniridia",

keywords = "Aniridia/diagnosis, Cost-Benefit Analysis, Genetic Testing, Genotype, Humans, Mutation, Nerve Tissue Proteins/genetics, PAX6 Transcription Factor/genetics, Pathology, Molecular, Risk Assessment, Sensitivity and Specificity",

author = "Rose Richardson and Melanie Hingorani and {Van Heyningen}, Veronica and Cheryl Gregory-Evans and Mariya Moosajee",

year = "2016",

month = nov,

doi = "10.1038/ejhg.2016.73",

language = "English",

volume = "24",

journal = "European journal of human genetics : EJHG",

issn = "1018-4813",

publisher = "Springer Nature",

number = "11",

}

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T2 - Aniridia

AU - Richardson, Rose

AU - Hingorani, Melanie

AU - Van Heyningen, Veronica

AU - Gregory-Evans, Cheryl

AU - Moosajee, Mariya

PY - 2016/11

Y1 - 2016/11

KW - Aniridia/diagnosis

KW - Cost-Benefit Analysis

KW - Genetic Testing

KW - Genotype

KW - Humans

KW - Mutation

KW - Nerve Tissue Proteins/genetics

KW - PAX6 Transcription Factor/genetics

KW - Pathology, Molecular

KW - Risk Assessment

KW - Sensitivity and Specificity

U2 - 10.1038/ejhg.2016.73

DO - 10.1038/ejhg.2016.73

M3 - Article

C2 - 27381094

SN - 1018-4813

VL - 24

JO - European journal of human genetics : EJHG

JF - European journal of human genetics : EJHG

IS - 11

ER -