12q21 Microdeletion in a fetus with Meckel syndrome involving CEP290/MKS4
Tài liệu tham khảo
Salonen, 1984, The Meckel syndrome in Finland: epidemiologic and genetic aspects, Am. J. Med. Genet., 18, 691, 10.1002/ajmg.1320180415
Kyttälä, 2006, MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome, Nat. Genet., 38, 155, 10.1038/ng1714
Khaddour, 2007, Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation, Hum. Mutat., 28, 523, 10.1002/humu.9489
Iannicelli, 2010, Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies, Hum. Mutat., 31, 1319
Baala, 2007, Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome, Am. J. Med. Hum. Genet., 81, 170, 10.1086/519494
Mougou-Zerelli, 2009, CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation, Hum. Mutat., 30, 1574, 10.1002/humu.21116
Brancati, 2007, CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders, Am. J. Hum. Genet., 81, 104, 10.1086/519026
Hopp, 2011, B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis, Hum. Mol. Genet., 20, 2524, 10.1093/hmg/ddr151
Travaglini, 2009, Expanding CEP290 mutational spectrum in ciliopathies, Am. J. Med. Genet., 149, 2173, 10.1002/ajmg.a.33025
CEP290 Mutation Database. Available from: http://medgen.ugent.be/cep290/.