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

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 mutation. H...

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Detalles Bibliográficos
Autores principales: Wormser, Ohad, Perez, Yonatan, Dolgin, Vadim, Kamali, Bahman, Tangeman, Jared A., Gradstein, Libe, Yogev, Yuval, Hadar, Noam, Freund, Ofek, Drabkin, Max, Halperin, Daniel, Irron, Inbar, Grajales-Esquivel, Erika, Del Rio-Tsonis, Katia, Birnbaum, Ramon Y., Akler, Gidon, Birk, Ohad S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425348/
https://www.ncbi.nlm.nih.gov/pubmed/37580330
http://dx.doi.org/10.1038/s41525-023-00364-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10425348/
https://www.ncbi.nlm.nih.gov/pubmed/37580330
http://dx.doi.org/10.1038/s41525-023-00364-x

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