Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

Background Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused
by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 …

Human eye development is coordinated through an extensive network of genetic signalling
pathways. Disruption of key regulatory genes in the early stages of eye development can …

Background/aims Microphthalmia, anophthalmia and coloboma (MAC) are clinically and
genetically heterogenous rare developmental eye conditions, which contribute to a …

Background & Aims The etiology of cholestasis remains unknown in many children. We
surveyed the genome of children with chronic cholestasis for variants in genes not …

The five flat bones of developing cranial plates are bounded by fibrous sutures, which
remain open during development to accommodate for the growing brain. Kdm6A is a …

Background Kabuki syndrome type 1 (KS1), a rare multisystem congenital disorder, presents
with characteristic facial features, intellectual disability, persistent fetal fingertip pads …

Abstract Background and Aim Advances in molecular genetics have uncovered causative
genes responsible for neonatal cholestasis. Panel‐based next‐generation sequencing has …

Background Biliary atresia (BA) cases are generally not associated with congenital
abnormalities. However, accurate diagnosis of BA is often challenging because the …

Retinal congenital malformations known as microphthalmia, anophthalmia, and coloboma
(MAC) are associated with alterations in genes encoding epigenetic proteins that modify …