IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma

Abstract Genomic sequences residing within introns of few genes have been shown to act as enhancers affecting expression of neighboring genes. We studied an autosomal recessive phenotypic continuum of microphthalmia, anophthalmia and ocular coloboma, with no apparent coding-region disease-causing mu...

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Bibliographic Details
Main Authors: Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A. Tangeman, Libe Gradstein, Yuval Yogev, Noam Hadar, Ofek Freund, Max Drabkin, Daniel Halperin, Inbar Irron, Erika Grajales-Esquivel, Katia Del Rio-Tsonis, Ramon Y. Birnbaum, Gidon Akler, Ohad S. Birk
Format: Article
Language:English
Published: Nature Portfolio 2023-08-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-023-00364-x

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https://doi.org/10.1038/s41525-023-00364-x

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