Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome

MeSH terms

• Abnormalities, Multiple / genetics*
• Agenesis of Corpus Callosum
• Child
• Child, Preschool
• Chromosome Deletion*
• Face / abnormalities
• Female
• Genotype
• Heart Defects, Congenital / genetics*
• Hirschsprung Disease / genetics*
• Homeodomain Proteins / genetics*
• Humans
• Infant
• Intellectual Disability / genetics*
• Male
• Phenotype
• Repressor Proteins / genetics*
• Seizures / genetics*
• Syndrome
• Toes / abnormalities
• Zinc Finger E-box Binding Homeobox 2
• Zinc Fingers / genetics