Primary neurulation in mammals has been defined by distinct anatomical closure sites, at
the hindbrain/cervical spine (closure 1), forebrain/midbrain boundary (closure 2), and rostral …

Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders
often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic …

Craniofacial development in vertebrates involves the coordinated growth, migration, and
fusion of several facial prominences during embryogenesis, processes governed by strict …

Structural genomic variations represent a major driving force of evolution, and a burst of
large segmental gene duplications occurred in the human lineage during its separation from …

Kibar Z, Salem S, Bosoi CM, Pauwels E, De Marco P, Merello E, Bassuk AG, Capra V, Gros
P. Contribution of VANGL2 mutations to isolated neural tube defects. Vangl2 was identified …

The mouse homeobox gene, Gbx2, is expressed in discreet domains in the neural tube and
plays a key role in forebrain and hindbrain development. Previous studies have …

Mutations in the gene encoding the zinc finger transcription factor GLI3 (GLI-Kruppel family
member 3) have been identified in patients with Grieg cephalopolysyndactyly syndrome in …

Spina bifida, a neural tube closure defect (NTD) involving the posterior portion of what will
ultimately give rise to the spinal cord, is one of the most common and serious birth defects …

Loss-of-function mutations in glypican-3 (GPC3), one of the six mammalian glypicans,
causes the Simpson-Golabi-Behmel overgrowth syndrome (SGBS), and GPC3 null mice …

Grainyhead-like 2, encoded by GRHL2, is a member of a highly conserved family of
transcription factors that play essential roles during epithelial development …