Proximal 11p deletion syndrome (P11pDS): additional evaluation of the clinical and molecular aspects.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D048868:Adaptor Proteins, Signal Transducing; D000293:Adolescent; D000328:Adult; D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D019465:Craniofacial Abnormalities; D005097:Exostoses, Multiple Hereditary / Q000473:pathology; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010294:Parietal Bone / Q000002:abnormalities; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics; D000099065:Exostosin 2
D048868:Adaptor Proteins, Signal Transducing; C490666:MAPK8IP1 protein, human; D009687:Nuclear Proteins; D015534:Trans-Activators; D017351:N-Acetylglucosaminyltransferases; D000099065:Exostosin 2