Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).

Trochet, Delphine

Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). [electronic resource] - Human mutation May 2008 - 770 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1098-1004

10.1002/humu.20727 doi


Alanine--genetics
Alleles
Female
Genes, Dominant
Homeodomain Proteins--genetics
Homozygote
Humans
Infant, Newborn
Male
Mutation
Pedigree
Sleep Apnea, Central--genetics
Transcription Factors--genetics