Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients
Journal
Scientific Reports
ISSN
2045-2322
Date Issued
2017
Author(s)
Luis E. León
Karena Espinoza
Patricia Alvarez
Mirta Palomares
Guillermo Lay-Son
Macarena Miranda
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
copy-number variation
;
deletion syndrome
;
developmental-disabilities
;
interaction networks
;
chromosome 22q11.2
;
mutations
;
disease
;
mechanisms
;
expression
;
anomalies