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

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

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

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

Purpose With contemporaneous advances in congenital central hypoventilation syndrome
(CCHS), recognition, confirmatory diagnostics with PHOX2B genetic testing, and …

Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of
neurodevelopment, with an autosomal dominant transmission, caused by heterozygous …

Purpose CCHS is an extremely rare congenital disorder requiring artificial ventilation as life
support. Typically caused by heterozygous polyalanine repeat expansion mutations …

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined
by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene …

Abstract Paired Like homeobox 2B (PHOX2B) is a gene crucial for the differentiation of the
neural lineages of the autonomic nervous system (ANS), whose coding mutations cause …

Abstract Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and
Autonomic Dysregulation (ROHHAD) and Congenital Central Hypoventilation Syndrome …