De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly

Kabuki syndrome (KS) is characterized by typical facial features and patients are also affected by multiple congenital anomalies, of which congenital heart anomalies (CHAs) are present in 28.0 to 80.0%. In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D...

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Detalles Bibliográficos
Autores principales: Stangler Herodež, Š, Marčun Varda, N, N, Kokalj Vokač, Krgović, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474217/
https://www.ncbi.nlm.nih.gov/pubmed/32953414
http://dx.doi.org/10.2478/bjmg-2020-0008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474217/
https://www.ncbi.nlm.nih.gov/pubmed/32953414
http://dx.doi.org/10.2478/bjmg-2020-0008

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