This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …

Background Fetal structural anomalies, which are detected by ultrasonography, have a
range of genetic causes, including chromosomal aneuploidy, copy number variations …

Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …

Background Exome sequencing is now being incorporated into clinical care for pediatric and
adult populations, but its integration into prenatal diagnosis has been more limited. One …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic
face, short stature, various organ malformations, and a variable degree of intellectual …

The Mendelian disorders of the epigenetic machinery are genetic disorders that involve
disruption of the various components of the epigenetic machinery (writers, erasers, readers …

Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes
of histone modification, including KMT2D and KDM6A. This review assesses our current …

Normal vascular development includes the formation and specification of arteries, veins, and
intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common …