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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Bibliographic Details
Published in:Balkan J Med Genet
Main Authors: Stangler Herodež, Š, Marčun Varda, N, N, Kokalj Vokač, Krgović, D
Format: Artigo
Language:Inglês
Published: Sciendo 2020
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7474217/
https://ncbi.nlm.nih.gov/pubmed/32953414
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2020-0008
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