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

Kabuki syndrome (KS) is an autosomal dominant genetic disorder in which most cases are caused by de novo mutations. KS type 1 is caused by mutations in KMT2D (OMIM: #147920) and is more common. KS type 2 is caused by mutations in KDM6A (OMIM: #300867). Both genes encode proteins that modify histones...

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Detalles Bibliográficos
Autores principales: Aristizábal, Erica, Diaz-Ordóñez, Lorena, Candelo, Estephania, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502069/
https://www.ncbi.nlm.nih.gov/pubmed/34675602
http://dx.doi.org/10.2147/TACG.S317723

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502069/
https://www.ncbi.nlm.nih.gov/pubmed/34675602
http://dx.doi.org/10.2147/TACG.S317723

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