The Hedgehog signalling pathway has crucial roles in embryonic tissue patterning,
postembryonic tissue regeneration, and cancer, yet aspects of Hedgehog signal …

Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of
structural renal malformations and are the leading cause of end-stage renal disease in …

The corpus callosum is the largest fibre tract in the brain, connecting the two cerebral
hemispheres, and thereby facilitating the integration of motor and sensory information from …

The differential diagnostic process attempts to identify candidate diseases that best explain
a set of clinical features. This process can be complicated by the fact that the features can …

Gli proteins are transcriptional effectors of the Hedgehog signaling pathway. They play key
roles in the development of many organs and tissues, and are deregulated in birth defects …

VACTERL/VATER association is typically defined by the presence of at least three of the
following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo …

The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

The nonsense-mediated decay (NMD) pathway is an mRNA surveillance system that
typically degrades transcripts containing premature termination codons (PTCs) in order to …

Abstract Development of the forebrain critically depends on the Sonic Hedgehog (Shh)
signaling pathway, as illustrated in humans by the frequent perturbation of this pathway in …

Oesophageal atresia and/or tracheo-oesophageal fistula are relatively common
malformations occurring in approximately 1 in 3500 births. In around half of the cases …