Rapid-onset obesity with hypothalamic dysfunction, hypoventi... : Current Opinion in
Pediatrics Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and …

Congenital central hypoventilation syndrome (CCHS) is a neurodevelopmental disorder
characterized by life-threatening hypoventilation, possibly resulting from disruption of central …

Neural crest cells (NCC) are a migratory stem and progenitor cell population established
early in development from the time of gastrulation through to organogenesis. As discussed …

Congenital central hypoventilation syndrome is a disorder predisposed by a paired‐like
homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing …

Heterozygous germline mutations in PHOX2B, a transcriptional regulator of sympathetic
neuronal differentiation, predispose to diseases of the sympathetic nervous system …

We describe a three generation family in whom multiple individuals are variably affected due
to a PHOX2B non‐polyalanine repeat mutation. This family demonstrates extreme …

Intellectual disability (ID) is a highly prevalent disorder that affects 1–3% of the population.
The Aristaless-related homeobox gene (ARX) is a frequently mutated X-linked ID gene and …

Congenital central hypoventilation syndrome (CCHS)(including later-onset CCHS) and
rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic …

Congenital central hypoventilation syndrome (CCHS)(including later-onset CCHS) and
rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic …