CRIM1 haploinsufficiency causes defects in eye development in human and mouse

Colobomatous macrophthalmia with microcornea syndrome (MACOM, Online Mendelian Inheritance in Man (OMIM) 602499) is an autosomal dominantly inherited malformation of the eye, which is characterized by microcornea with increased axial length, coloboma of the iris and of the optic disc, and severe myo...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Mol Genet
Prif Awduron: Beleggia, Filippo, Li, Yun, Fan, Jieqing, Elciog˘lu, Nursel H., Toker, Ebru, Wieland, Thomas, Maumenee, Irene H., Akarsu, Nurten A., Meitinger, Thomas, Strom, Tim M., Lang, Richard, Wollnik, Bernd
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2015
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4380072/
https://ncbi.nlm.nih.gov/pubmed/25561690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu744
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