[Paracentromeric rupture of the long arm of a 2 chromosome in a 9-month-old girl with cystathioninuria, psychomotor retardation and cataract].
D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D000596:Amino Acids / Q000652:urine; D002386:Cataract / Q000150:complications*; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007223:Infant; D011596:Psychomotor Disorders / Q000150:complications*
D000596:Amino Acids
Rottura paracentromerica del braccio lungo di un cromosoma 2 in una bambina di 9 mesi affetta da cistationinuria, ritardo psicomotorio e cataratta.