We identified four different missense mutations in the single-exon gene MAB21L2 in eight
individuals with bilateral eye malformations from five unrelated families via three …

Loss of function mutations in CTNNB1 have been reported in individuals with intellectual
disability [MIM# 615075] associated with peripheral spasticity, microcephaly and central …

Purpose Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder
with spastic diplegia and visual defects (NEDSDV; OMIM 615075) and are the most …

ZMIZ1 is a coactivator of several transcription factors, including p53, the androgen receptor,
and NOTCH1. Here, we report 19 subjects with intellectual disability and developmental …

Array-comparative genomic hybridisation (array-CGH) is a relatively new test that permits
close scrutiny of chromosomal structure to detect genomic microdeletions and …

Mutations in TCF4 (basic helix-loop-helix transcription factor 4), a gene with complex
organization and multiple transcription initiation sites, are usually associated with Pitt …

The vacuolar H+-ATPase is an enzymatic complex that functions in an ATP-dependent
manner to pump protons across membranes and acidify organelles, thereby creating the …

The association of long QT syndrome and left ventricular noncompaction is uncommon, with
only a handful of previous reports, and only one reported case in association with a mutation …

Brain-lung-thyroid syndrome (OMIM# 610978) is associated with mutations in the NK2
homeobox 1 (NKX2-1) gene, a transcription factor important in development. 50% of patients …

ABSTRACT The vacuolar H+-ATPase (V-ATPase) is an enzymatic complex that that
functions in an ATP-dependent manner to pump protons across membranes and acidify …