Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4. [5] It codes for a …

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 …

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). …

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 …

Genetic testing of PHOX2B will detect a mutation in >99% of people with CCHS (clinical sensitivity). Ambry's PHOX2B analysis can detect >99.9% of described mutations in the gene, …

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 …

Yokoyama et al. (1996) identified the PHOX2B gene, which they called NBPhox for 'neuroblastoma phox,' from a 3-prime-directed cDNA library derived from the human …

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 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 …