title: Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: H
authors.initials: H
authors.lastname: Van Esch
authors.forename: P
authors.initials: P
authors.lastname: Debeer
authors.forename: M
authors.initials: M
authors.lastname: Gewillig
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005530:Foot Deformities / Q000000981:diagnostic imaging / Q000235:genetics*; D006226:Hand Deformities / Q000000981:diagnostic imaging / Q000235:genetics*; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D011859:Radiography; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000235:genetics*; D014681:Velopharyngeal Insufficiency / Q000235:genetics*
chemical_list: C489832:HOXA3 protein, human; D018398:Homeodomain Proteins; D015534:Trans-Activators; C099959:homeobox protein HOXA13; C088144:HoxA protein