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The Application of Clinical Genetics Volume 14, 2021 - Issue
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Case Report

A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report

Erica Aristizábal1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, ColombiaView further author information
,
Lorena Diaz-Ordóñez1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, ColombiaCorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-3140-6332View further author information
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Estephania Candelo1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia;2 Fundación Valle del Lili, Cali, Valle del Cauca, ColombiaORCID Iconhttps://orcid.org/0000-0003-3002-7071View further author information
ORCID Icon &
Harry Pachajoa1 Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia;2 Fundación Valle del Lili, Cali, Valle del Cauca, ColombiaORCID Iconhttps://orcid.org/0000-0003-2672-0439View further author information
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Pages 409-416 | Published online: 05 Oct 2021

Citations (3)

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Read on this site (1)

Amanda A. Marques, Sabrina R. Ribeiro, Sabrina de C. Brasil & Flávio R. F. Alves. (2023) C.E. Credit. Kabuki Syndrome and Its Oral Manifestations: A Case Report. Journal of the California Dental Association 51:1.
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Articles from other publishers (2)

Shuolin Li, Jing Liu, Yuan Yuan, Aizhen Lu, Fang Liu, Li Sun, Quanli Shen & Libo Wang. (2022) Case report: A study on the de novo KMT2D variant of Kabuki syndrome with Goodpasture’s syndrome by whole exome sequencing. Frontiers in Pediatrics 10.
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Badam Enkhmandakh, Paul Robson, Pujan Joshi, Anushree Vijaykumar, Dong-Guk Shin, Mina Mina & Dashzeveg Bayarsaihan. (2022) Single-Cell Transcriptome Analysis Defines Expression of Kabuki Syndrome-Associated KMT2D Targets and Interacting Partners. Stem Cells International 2022, pages 1-9.
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