title: Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?
authors.affiliation: Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen Department of Genetics, University Medical Center Groningen, Groningen University, Groningen, The Netherlands.
authors.forename: Marjolijn C J
authors.initials: MCJ
authors.lastname: Jongmans
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Jayne Y
authors.initials: JY
authors.lastname: Hehir-Kwa
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Wilhelmina S
authors.initials: WS
authors.lastname: Kerstjens-Frederikse
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002675:Child, Preschool; D002754:Choanal Atresia / Q000175:diagnosis / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006226:Hand Deformities / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008334:Mandible / Q000002:abnormalities* / Q000473:pathology; D008437:Maxilla / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome