Search Results - "Zucchetti, Federica"
-
1
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients
Published in Human mutation (01-07-2014)“…ABSTRACT Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental…”
Get full text
Journal Article -
2
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome
Published in Molecular genetics and metabolism (01-11-2012)“…Kabuki syndrome is a rare, multiple congenital anomaly/mental retardation syndrome caused by MLL2 point mutations and KDM6A microdeletions. We screened a large…”
Get full text
Journal Article -
3
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients
Published in Human mutation (01-07-2014)Get full text
Journal Article