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

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

Erica Aristizábal,1 Lorena Diaz-Ordóñez,1 Estephania Candelo,1,2 Harry Pachajoa1,2 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia; 2Fundación Valle del Lili, Cali, Valle del Cauca, Colo...

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Bibliographic Details
Main Authors: Aristizábal E, Diaz-Ordóñez L, Candelo E, Pachajoa H
Format: Article
Language:English
Published: Dove Medical Press 2021-10-01
Series:The Application of Clinical Genetics
Subjects:
kabuki syndrome
coloboma
rare disease
rna splicing
sensorineural hearing loss
Online Access:https://www.dovepress.com/a-novel-intronic-kmt2d-variant-as-a-cause-of-kabuki-syndrome-a-case-re-peer-reviewed-fulltext-article-TACG

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https://www.dovepress.com/a-novel-intronic-kmt2d-variant-as-a-cause-of-kabuki-syndrome-a-case-re-peer-reviewed-fulltext-article-TACG

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