Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome?
Jongmans
Marjolijn C J
MCJ
Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen Department of Genetics, University Medical Center Groningen, Groningen University, Groningen, The Netherlands.
Pfundt
Rolph
R
Hehir-Kwa
Jayne Y
JY
Brunner
Han G
HG
Kerstjens-Frederikse
Wilhelmina S
WS
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