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1. Cohen I, Silberstein E, Perez Y, Landau D, Elbedour K, Langer Y, Kadir R,Volodarsky M, Sivan S, Narkis G, Birk OS. Autosomal recessive Adams-Oliversyndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specificO-GlcNAc transferase. Eur J Hum Genet. 2014 Mar;22(3):374-8. doi:10.1038/ejhg.2013.159.
2. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W, Zhao ZJ, Mulvihill JJ,Robertson J, Warner J, Gaffney PM. RBPJ mutations identified in two familiesaffected by Adams-Oliver syndrome. Am J Hum Genet. 2012 Aug 10;91(2):391-5. doi: 10.1016/j.ajhg.2012.07.005.
3. Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den HollanderN, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, LehmanA, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R,Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Heterozygous Loss-of-FunctionMutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet. 2015 Sep3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015.
4. Ogawa M, Sawaguchi S, Kawai T, Nadano D, Matsuda T, Yagi H, Kato K, FurukawaK, Okajima T. Impaired O-linked N-acetylglucosaminylation in the endoplasmicreticulum by mutated epidermal growth factor (EGF) domain-specific O-linkedN-acetylglucosamine transferase found in Adams-Oliver syndrome. J Biol Chem. 2015Jan 23;290(4):2137-49. doi: 10.1074/jbc.M114.598821.
5. Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A,Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessiveAdams-Oliver syndrome. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi:10.1016/j.ajhg.2013.02.012.
6. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N,Hashem M, Alkuraya FS. Recessive mutations in DOCK6, encoding the guanidinenucleotide exchange factor DOCK6, lead to abnormal actin cytoskeletonorganization and Adams-Oliver syndrome. Am J Hum Genet. 2011 Aug 12;89(2):328-33.doi: 10.1016/j.ajhg.2011.07.009.
7. Snape KM, Ruddy D, Zenker M, Wuyts W, Whiteford M, Johnson D, Lam W, Trembath RC. The spectra of clinical phenotypes in aplasia cutis congenita and terminaltransverse limb defects. Am J Med Genet A. 2009 Aug;149A(8):1860-81. doi:10.1002/ajmg.a.32708. Review.
8. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA,Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS,Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, TrembathRC. Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. Am J Hum Genet. 2011 May13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013.
9. Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, SnapeKM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver SyndromeWith Variable Cardiac Anomalies. Circ Cardiovasc Genet. 2015 Aug;8(4):572-581.doi: 10.1161/CIRCGENETICS.115.001086.
10. Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, KhromykhA, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, GlusmanG, Niederhuber JE, Roach JC, Patel MS. Mutations in NOTCH1 cause Adams-Oliversyndrome. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi:10.1016/j.ajhg.2014.07.011.
11. Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E,Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S,Wuyts W, Southgate L, Zenker M. DOCK6 mutations are responsible for a distinctautosomal-recessive variant of Adams-Oliver syndrome associated with brain andeye anomalies. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795.
12. Swartz EN, Sanatani S, Sandor GG, Schreiber RA. Vascular abnormalities inAdams-Oliver syndrome: cause or effect? Am J Med Genet. 1999 Jan 1;82(1):49-52.
13. Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W. Clinical and molecularanalysis of nine families with Adams-Oliver syndrome. Eur J Hum Genet. 2003Jun;11(6):457-63.