Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare
condition characterized by an alveolar hypoventilation due to a deficient autonomic central …

Advances in neuroimaging, developmental biology and molecular genetics have increased
the understanding of developmental disorders affecting the midbrain and hindbrain, both as …

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
alveolar hypoventilation and autonomic dysregulation. Purpose:(1) To demonstrate the …

Rationale: Congenital central hypoventilation syndrome (CCHS), a unique disorder of
respiratory control associated with Hirschsprung disease (HSCR) and tumors of neural crest …

The Aristaless‐related homeobox gene (ARX) is one of the most frequently mutated genes
in a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as their cardinal …

Abnormal trinucleotide repeat expansions alter protein conformation causing malfunction
and contribute to a significant number of incurable human diseases. Scarce structural …

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence
of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the …

Heterozygous mutations of the PHOX2B gene account for a broad variety of disorders of the
autonomic nervous system, either isolated or combined, including congenital central …

Simple Summary Neuroblastoma is a tumor of the sympathetic nervous system that
substantially contributes to childhood cancer mortality. Neuroblastoma originates from the …

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the
autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to …