title: Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation.
mesh_terms: D000293:Adolescent; D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D020782:Matrix Metalloproteinases / Q000235:genetics; D008666:Metalloendopeptidases / Q000235:genetics
chemical_list: C492180:MMP23A protein, human; C117705:MMP23B protein, human; D020782:Matrix Metalloproteinases; D008666:Metalloendopeptidases