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Genetics and ocular disorders: a focused review.

Identifieur interne : 002B29 ( PubMed/Curation ); précédent : 002B28; suivant : 002B30

Genetics and ocular disorders: a focused review.

Auteurs : Hannah L. Scanga [États-Unis] ; Ken K. Nischal [États-Unis]

Source :

Pediatric clinics of North America [ 1557-8240 ] ; 2014.

RBID : pubmed:24852152

Descripteurs français

KwdFr :
- Dépistage génétique (), Enfant, Humains, Maladies de l'oeil (diagnostic), Maladies de l'oeil (génétique), Phénotype.
MESH :
- diagnostic : Maladies de l'oeil.
- génétique : Maladies de l'oeil.
- Dépistage génétique, Enfant, Humains, Phénotype.

English descriptors

KwdEn :
- Child, Eye Diseases (diagnosis), Eye Diseases (genetics), Genetic Testing (methods), Humans, Phenotype.
MESH :
- diagnosis : Eye Diseases.
- genetics : Eye Diseases.
- methods : Genetic Testing.
- Child, Humans, Phenotype.

Abstract

Increasingly accurate phenotyping leads to better genetic evaluation. Genetic eye conditions may be due to a common cellar defect (eg, ciliopathies or RASopathies). Early-onset retinal dystrophies may be associated with renal disease. An understanding of genetic testing helps clinicians identify shortcomings in testing which may lead to a better understanding of the most appropriate test for a given ocular condition. Dedicated genetic counselors within ophthalmic and pediatric clinics are likely to improve the delivery of clinical care in these settings.

DOI: 10.1016/j.pcl.2014.03.005
PubMed: 24852152

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pubmed:24852152

Le document en format XML

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<front><div type="abstract" xml:lang="en">Increasingly accurate phenotyping leads to better genetic evaluation. Genetic eye conditions may be due to a common cellar defect (eg, ciliopathies or RASopathies). Early-onset retinal dystrophies may be associated with renal disease. An understanding of genetic testing helps clinicians identify shortcomings in testing which may lead to a better understanding of the most appropriate test for a given ocular condition. Dedicated genetic counselors within ophthalmic and pediatric clinics are likely to improve the delivery of clinical care in these settings.</div>
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Genetics and ocular disorders: a focused review.

Genetics and ocular disorders: a focused review.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki