ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder
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Published:2019-09
Issue:9
Volume:21
Page:2103-2115
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Williams Lloyd B.ORCID, Javed Asif, Sabri Amin, Morgan Denise J., Huff Chad D., Grigg John R., Heng Xiu Ting, Khng Alexis J., Hollink Iris H.I.M., Morrison Margaux A., Owen Leah A., Anderson Katherine, Kinard Krista, Greenlees Rebecca, Novacic Danica, Nida Sen H., Zein Wadih M., Rodgers George M., Vitale Albert T., Haider Neena B., Hillmer Axel M., Ng Pauline C., Shankaracharya , Cheng Anson, Zheng Linda, Gillies Mark C., van Slegtenhorst Marjon, van Hagen P. Martin, Missotten Tom O.A.R., Farley Gary L., Polo Michael, Malatack James, Curtin Julie, Martin Frank, Arbuckle Susan, Alexander Stephen I., Chircop Megan, Davila Sonia, Digre Kathleen B., Jamieson Robyn V., DeAngelis Margaret M.
Funder
National Health and Medical Research Council A*STAR JCO Research to Prevent Blindness
Subject
Genetics (clinical)
Cited by
34 articles.
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