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A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report

Crossref DOI link: https://doi.org/10.1016/j.oftale.2025.06.007

Published Print: 2025-08

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Authors

Garza-Garza, L.A.

Arizpe, A.P.

Morales-Reyes, R.

Villafuerte-de la Cruz, R.A.

Garza-León, M.
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Text and Data Mining valid from 2025-08-01
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Article Title: A novel KMT2D gene variant c.6341del (p.Gly2114Alafs*30) and its phenotypic presentation in a Hispanic-Mexican woman with Kabuki syndrome: A case report

Journal Title: Archivos de la Sociedad Española de Oftalmología (English Edition)

CrossRef DOI link to publisher maintained version: https://doi.org/10.1016/j.oftale.2025.06.007

CrossRef DOI link to the associated document: https://doi.org/10.1016/j.oftal.2025.04.007

Content Type: article

Copyright: © 2025 Sociedad Española de Oftalmología. Published by Elsevier España, S.L.U. All rights are reserved, including those for text and data mining, AI training, and similar technologies.

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