A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …

Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

BACKGROUND Hypospadias is a common congenital malformation of the male external
genitalia. Most cases have an unknown aetiology, which is probably a mix of monogenic …

Our core hypothesis is that the emergence of our species-specific language-ready brain
ought to be understood in light of the developmental changes expressed at the levels of …

Background: The chromosome 17q21. 31 microdeletion syndrome is a novel genomic
disorder that has originally been identified using high resolution genome analyses in …

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized
by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially …

Purpose Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital
anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally …

After its publication in 1999 as a DNA-binding and SMAD-binding transcription factor (TF)
that co-determines cell fate in amphibian embryos, ZEB2 was from 2003 studied by …

Mowat-Wilson syndrome is caused by mutations in ZEB2, with patients exhibiting
characteristics indicative of neural crest (NC) defects. We examined the contribution of ZEB2 …

Signaling by the many ligands of the TGFβ family strongly converges towards only five
receptor-activated, intracellular Smad proteins, which fall into two classes ie Smad2/3 and …