Author:
Bonaglia Maria Clara,Zanotta Nicoletta,Giorda Roberto,D’Angelo Grazia,Zucca Claudio
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry, medical,Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Reference9 articles.
1. Shimojima K, Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, et al. A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination. Am J Med Genet A. 2011;155A:732–6.
2. Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, et al. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012;158A:1891–6.
3. Brown N, Burgess T, Forbes R, McGillivray G, Kornberg A, Mandelstam S, et al. 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases. Am J Med Genet A. 2013;161A:2604–8.
4. Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, et al. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am J Med Genet A. 2011;155A:1906–16.
5. Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95(5):579–83.
Cited by
15 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献