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 …

The modern story of CCHS began in 1970 with the first description by Mellins et al., came
most visibly to the public eye with the ATS Statement in 1999, and continues with …

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

The dilemma of how to categorize and classify diseases has been debated for centuries.
The field of medical genetics has historically approached nosology based on clinical …

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

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 …

The development of central nervous system (CNS) and enteric nervous system (ENS) is
under precise and strict control in vertebrates. Whether and how the Polycomb repressive …

Hirschsprung's disease (HSCR) is a fairly frequent cause of intestinal obstruction in children.
It is characterized as a sex-linked heterogonous disorder with variable severity and …

Hirschsprung disease (HSCR) is a congenital malformation of the hindgut resulting from a
disruption of neural crest cell migration during embryonic development. It has a complex …

This comprehensive review undertakes a multidisciplinary exploration of the gut-lung axis,
from the foundational aspects of anatomy, embryology, and histology, through the functional …