The PHOX2B gene provides instructions for making a protein that is important during development before birth. The PHOX2B protein helps support the formation of nerve cells …

2024年12月25日 · PHOX2B (Paired Like Homeobox 2B) is a Protein Coding gene. Diseases associated with PHOX2B include Central Hypoventilation Syndrome, Congenital, 1 and …

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control due to a mutation in the paired-like homeobox …

2004年1月28日 · CCHS is typically inherited in an autosomal dominant manner (CCHS caused by biallelic reduced penetrance PHOX2B pathogenic variants has been reported in two families). …

PHOX2B is a highly sensitive and specific immunohistochemical marker for peripheral neuroblastic tumours, including neuroblastoma.

More than 75 mutations in the PHOX2B gene have been found to cause congenital central hypoventilation syndrome (CCHS). This condition is characterized by shallow breathing …

Central hypoventilation syndrome is an autosomal dominant disorder that is characterized by shallow breathing with occasional apnea. Age of onset is typically in the newborn period, and …

PHOX2B expression is a reliable immunomarker for peripheral neuroblastic tumours; however, no systematic evaluation of central nervous system (CNS) embryonal tumours was included in …

1999年5月27日 · Here we show that all autonomic ganglia fail to form properly and degenerate in mice lacking the homeodomain transcription factor Phox2b, as do the three cranial sensory …

2021年5月6日 · This comprehensive report of PHOX2B NPARMs and associated phenotypes, aims at elucidating potential genotype–phenotype correlations that will guide anticipatory …