Microduplication 10q24.31 in a Spanish girl with scoliosis and myopathy: The critical role of LBX - Fernández-Jaén, Alberto; Suela, Javier; Fernández-Mayoralas, Daniel Martín; Fernández-Perrone, Ana Laura; Wotton, Karl R.; Dietrich, Susanne; Castellanos, Maria del Carmen; Cigudosa, Juan C.; Calleja-Pérez, Beatriz; López-Martín, Sara (American journal of medical genetics. Part A, 2014)
Keywords: 10q24.31; Child; Chromosome Duplication; Chromosomes, Human, Pair 10; Comparative Genomic Hybridization; Female; Genetic Association Studies; Homeodomain Proteins - genetics; Humans; LBX1; Magnetic Resonance Imaging; Muscular Diseases - diagnosis; Muscular Diseases - genetics; myopathy; Phenotype; Radiography; scoliosis; Scoliosis - diagnosis; Scoliosis - genetics; SHFM3; Spain; Spine - diagnostic imaging; Spine - pathology; Transcription Factors - genetics; 10q24.31; SHFM3; LBX1; myopathy; scoliosis