Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease.
Fitze
Guido
G
Department of Pediatric Surgery, University of Technology Dresden, Dresden, Germany. guido.fitze@mailbox.tu-dresden.de
König
Inke R
IR
Paditz
Ekkehart
E
Serra
Alexandre
A
Schläfke
Marianne
M
Roesner
Dietmar
D
Ziegler
Andreas
A
Schackert
Hans K
HK
D015331:Cohort Studies; D005260:Female; D016368:Frameshift Mutation; D005787:Gene Frequency; D005838:Genotype; D018095:Germ-Line Mutation; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000150:complications / Q000235:genetics*; D008297:Male; D011110:Polymorphism, Genetic; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human