DECIPHER (D atabas e of Genomi c Var i ation and P henotype in H umans Using E nsembl
R esources) shares candidate diagnostic variants and phenotypic data from patients with …

Mowat-Wilson Syndrome (MWS)(OMIM# 235730) is a rare disorder due to ZEB2 gene
defects (heterozygous mutation or deletion). The ZEB2 gene is a widely expressed …

Mowat-Wilson syndrome (MOWS) is a rare congenital disease caused by haploinsufficiency
of ZEB2, encoding a transcription factor required for neurodevelopment. MOWS is …

Background: To report detailed knowledge about the clinical manifestations, genetic
spectrum as well as physical, language, neurodevelopment features and genotype …

High-throughput sequencing has identified vast numbers of variants in genetic disorders.
However, the significance of variants at the exon-intron junction remains controversial. Even …

Cobalamin C (cblC) disease and Mowat-Wilson syndrome (MWS) are rare hereditary
diseases. To date, there have been no reports of people suffering from these two genetic …

Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic
variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the …

Background Medical decision making based on quantitative test results depends on reliable
reference intervals, which represent the range of physiological test results in a healthy …

A female infant, who was diagnosed antenatally with complex heart disease, confirmed to be
Shone's complex postnatally, underwent bilateral pulmonary artery banding, patent ductus …

Mowat-Wilson syndrome can be mentioned as one of the most severe and, at the same time,
rare genetic abnormalities. The inheritance pattern of this disorder is an autosomal dominant …