The genetics and ocular findings of Alagille syndrome.

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The genetics and ocular findings of Alagille syndrome. Abstract Text:

Ben J Kim,Anne B Fulton,Ben J Kim,Anne B Fulton,Ben J Kim,Anne B Fulton,

Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.

The genetics and ocular findings of Alagille syndrome. Publishing Authors By Initials

BJ Kim,AB Fulton,BJ Kim,AB Fulton,BJ Kim,AB Fulton,

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PUBMED ID PMID:

MEDLINE DATE: 2007 Oct-Dec

The genetics and ocular findings of Alagille syndrome. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Seminars in ophthalmology

VOLUME: 22

Page Numbers: 205-10

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ISSN: 0882-0538

DAY: 21

MONTH: 12

YEAR: 2007

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LANGUAGE: eng

NlmUniqueID: 8610759

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AFFILIATION: Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.

Country: United States

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MEDLINETA: Semin Ophthalmol

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