The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

The formation of the face and skull involves a complex series of developmental events
mediated by cells derived from the neural crest, endoderm, mesoderm, and ectoderm …

Many craniofacial disorders are caused by heterozygous mutations in general regulators of
housekee** cellular functions such as transcription or ribosome biogenesis,. Although it is …

Defects in ribosome biogenesis are associated with a group of diseases called the
ribosomopathies, of which Diamond-Blackfan anemia (DBA) is the most studied. Ribosomes …

Disruptions in ribosomal biogenesis would be expected to have global and in fact lethal
effects on a develo** organism. However, mutations in ribosomal protein genes have …

Collectively, the ribosomopathies are caused by defects in ribosome biogenesis. Although
these disorders encompass deficiencies in a ubiquitous and fundamental process, the …

Objectives The molecular underpinnings of Treacher Collins Syndrome (TCS) are diverse.
This article codifies the most recent findings in this complex area of research to further …

In 2019, the Nosology Committee of the International Skeletal Dysplasia Society provided an
updated version of the Nosology and Classification of Genetic Skeletal Disorders. This is a …

Background Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder
involving first and second branchial arches derivatives, mainly characterised by asymmetric …

Zebrafish is a model organism that affords experimental advantages toward investigating the
normal function of genes associated with congenital birth defects. Here we summarize …