论文信息 - DLL4 loss‐of‐function heterozygous mutations cause Adams–Oliver syndrome

DLL4 loss‐of‐function heterozygous mutations cause Adams–Oliver syndrome

1. Snape KM, Ruddy D, Zenker M et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009: 149A (8): 1860–1881. 2. Hassed SJ, Wiley GB, Wang S et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. Am J Hum Genet 2012: 91 (2): 391–395. 3. Southgate L, Sukalo M, Karountzos AS et al. Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies. Circ Cardiovasc Genet 2015: 8 (4): 572–581.

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[1] J. Tolmie,et al. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies , 2015, Circulation. Cardiovascular genetics.

[2] P. Gaffney,et al. RBPJ mutations identified in two families affected by Adams-Oliver syndrome. , 2012, American journal of human genetics.

[3] R. Trembath,et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects , 2009, American journal of medical genetics. Part A.