Chung-Won Lee Jae-Ho Lee Eun-Young Jung Soon-Ok Choi Chun-Soo Kim Sang-Lak Lee Dae-Kwang Kim
10.3346/jkms.2011.26.2.312
J Korean Med Sci
2011 Feb;26(2):312-5.
congenital central hypoventilation syndrome haddad syndrome hirschsprung disease phox2b gene
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/21286029/
Homeodomain Proteins / genetics Mutation Transcription Factors / genetics
Homeodomain Proteins / genetics Mutation Transcription Factors / genetics Case Reports Research Support, Non-U.S. Gov't Asian People Base Sequence DNA Mutational Analysis Hirschsprung Disease / diagnosis Hirschsprung Disease / genetics Hirschsprung Disease / pathology Humans Hypoventilation / congenital Hypoventilation / diagnosis Hypoventilation / genetics Infant, Newborn Male Molecular Sequence Data Sleep Apnea, Central / diagnosis Sleep Apnea, Central / genetics Homeodomain Proteins NBPhox protein Transcription Factors Congenital central hypoventilation syndrome
PMC3031022
21286029
Haddad syndrome with PHOX2B gene mutation in a Korean infant
2011