Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.

Repetto, Gabriela M

Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. [electronic resource] - Acta paediatrica (Oslo, Norway : 1992) Jan 2009 - 192-5 p. digital

Publication Type: Case Reports; Journal Article

1651-2227

10.1111/j.1651-2227.2008.01039.x doi


Age of Onset
Child, Preschool
DNA Mutational Analysis
Homeodomain Proteins--genetics
Humans
Hypoventilation--genetics
Male
Peptides--genetics
Sleep Apnea, Central--congenital
Time Factors
Transcription Factors--genetics