title: Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease.
authors.affiliation: Department of Pediatric Surgery, University of Technology Dresden, Dresden, Germany. guido.fitze@mailbox.tu-dresden.de
authors.forename: Guido
authors.initials: G
authors.lastname: Fitze
authors.forename: Inke R
authors.initials: IR
authors.lastname: König
authors.forename: Ekkehart
authors.initials: E
authors.lastname: Paditz
authors.forename: Alexandre
authors.initials: A
authors.lastname: Serra
authors.forename: Marianne
authors.initials: M
authors.lastname: Schläfke
authors.forename: Dietmar
authors.initials: D
authors.lastname: Roesner
authors.forename: Andreas
authors.initials: A
authors.lastname: Ziegler
authors.forename: Hans K
authors.initials: HK
authors.lastname: Schackert
mesh_terms: 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*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human