The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies�…

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the
presence of a small eye within the orbit. The combined birth prevalence of these conditions�…

Abstract Cornelia de Lange syndrome (CdLS), also known as Brachmann‐de Lange
syndrome, is a well‐described multiple malformation syndrome typically involving�…

The role of DNA methylation and of the maintenance DNA methyltransferase Dnmt1 in the
epigenetic regulation of developmental stage-and cell lineage-specific gene expression in�…

Abstract The Human Phenotype Ontology (HPO) project, available at http://www. human-
phenotype-ontology. org, provides a structured, comprehensive and well-defined set of�…

Background Human genome sequencing has transformed our understanding of genomic
variation and its relevance to health and disease, and is now starting to enter clinical�…

De novo mutations in protein-coding genes are a well-established cause of developmental
disorders. However, genes known to be associated with developmental disorders account�…

Background Pediatric disorders include a range of highly penetrant, genetically
heterogeneous conditions amenable to genomewide diagnostic approaches. Finding a�…

A submicroscopic deletion containing SOX2 was identified at the 3q breakpoint in a child
with t (3; 11)(q26. 3; p11. 2) associated with bilateral anophthalmia. Subsequent SOX2�…

Cytogenetic evidence, in the form of deletions and balanced translocations, points to the
existence of a locus on 2q32–q33, for which haploinsufficiency results in isolated cleft palate�…