title: X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.
authors.affiliation: aInstitute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Duisburg and Essen bDepartment of Neonatology, Vest Children's Hospital Datteln, University Witten/Herdecke, Datteln cInstitute of Human Genetics, Biozentrum, University of Würzburg, Würzburg dDepartment of Obstetrics and Prenatal Medicine, University Bonn Medical School, Bonn eInstitute of Pathology, Charite - Universitaetsmedizin Berlin, Berlin, Germany.
authors.forename: Barbara
authors.initials: B
authors.lastname: Mikat
authors.forename: Claudia
authors.initials: C
authors.lastname: Roll
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.forename: Ulrich
authors.initials: U
authors.lastname: Gembruch
authors.forename: Iris
authors.initials: I
authors.lastname: Klempert
authors.forename: Karin
authors.initials: K
authors.lastname: Buiting
authors.forename: Nuria C
authors.initials: NC
authors.lastname: Bramswig
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
mesh_terms: D018376:Cardiovascular Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D018899:CpG Islands; D019175:DNA Methylation; D004252:DNA Mutational Analysis; D004065:Digestive System Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D051856:Fanconi Anemia Complementation Group Proteins / Q000235:genetics*; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D057898:Hemizygote; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics*; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D049951:X Chromosome Inactivation
chemical_list: C515775:FANCB protein, human; D051856:Fanconi Anemia Complementation Group Proteins