Haploinsufficiency of the HOXA gene cluster, in a patient with hand-foot-genital syndrome, velopharyngeal insufficiency, and persistent patent Ductus botalli.
Devriendt
K
K
Jaeken
J
J
Matthijs
G
G
Van Esch
H
H
Debeer
P
P
Gewillig
M
M
Fryns
J P
JP
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*
C489832:HOXA3 protein, human; D018398:Homeodomain Proteins; D015534:Trans-Activators; C099959:homeobox protein HOXA13; C088144:HoxA protein