IHH Enhancer Variant Within Neighboring NHEJ1 Intron Causes Microphthalmia Anophthalmia and Coloboma

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

NPJ GENOMIC MEDICINE（2023）

Cited 2|Views19

Key words

Eye abnormalities,Gene regulation,Genetic linkage study,Hereditary eye disease,Biomedicine,general,Human Genetics,Internal Medicine,Bioinformatics,Gene Therapy,Gene Function

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