Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy
characterized by absence of adequate autonomic control of respiration with decreased …

The PHOX2B transcription factor plays a crucial role in autonomic nervous system
development. In humans, heterozygous mutations of the PHOX2B gene lead to congenital …

Heterozygous mutations in the PHOX2B gene are causative of congenital central
hypoventilation syndrome (CCHS), a neurocristopathy characterized by defective autonomic …

Heterozygous trinucleotide in frame duplications, leading to expansions of variable lengths
of a 20-alanine stretch (polyAla), is the most frequent PHOX2B variant associated with …

Heterozygous polyalanine repeat expansions of PHOX2B have been associated with
Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by …

Heterozygous mutations of the human PHOX2B gene, a key regulator of autonomic nervous
system development, lead to congenital central hypoventilation syndrome (CCHS), a …

Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation
during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. Most cases …

Heterozygous in frame duplications of the PHOX2B gene, leading to polyalanine (polyAla)
expansions ranging from+ 5 to+ 13 residues of a 20-alanine stretch, have been identified in …

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

Congenital central hypoventilation syndrome (CCHS; MIM 209880) is caused mostly by
dominant alanine expansion (most prevalent is 7-alanine expansion) mutations in PHOX2B …