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Lancet, The, ISSN 0140-6736, 2013, Volume 382, Issue 9902, pp. 1424 - 1432
Journal Article
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2019, Volume 21, Issue 7, pp. 1548 - 1558
Purpose: To characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model. Methods: Patients with congenital scoliosis... 
gene dosage | compound inheritance model | congenital scoliosis (CS) | 16p11.2/TBX6 | genotype-phenotype correlation | DIAGNOSIS | ANOMALIES | MOUSE EMBRYOS | GENETICS & HEREDITY | 16P11.2 | MUTATIONS
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2019, Volume 56, Issue 7, pp. 427 - 433
Introduction Adolescent idiopathic scoliosis (AIS) is a common musculoskeletal disorder with strong evidence for a genetic contribution. CNVs play an important... 
copy-number | 16p11.2 | scoliosis | IDIOPATHIC SCOLIOSIS | VARIANTS | 16p11 | TBX6 | GENE | GENETICS & HEREDITY | FRAMEWORK | COMMON | MUTATIONS | COPY NUMBER VARIATION | DELETIONS | GENOME-WIDE ASSOCIATION | copy number variants
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 01/2019, Volume 14, Issue 1, pp. 23 - 12
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2009, Volume 24, Issue 5, pp. 849 - 859
Journal Article