Title : Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis?

Pub. Date : 2013 Aug

PMID : 22829249






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 A mutation analysis of PHOX2B gene revealed 25 polyalanine repeat expansion mutation on chromosome 4p12. polyalanine paired like homeobox 2B Homo sapiens