Citations for
1AOS, ARHGAP31
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies.
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, Trembath RC.
Am J Hum Genet 88(5):574-85. 2011
2AOS, AOS2, AOS3
Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome.
Balasubramanian M, Collins AL.
Eur J Med Genet 52(4):234-8. Epub 2009 May 4. Review. 2009
3AOS, AOS2, AOS3
Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: refining the features of a severe autosomal recessive variant.
McGoey RR, Lacassie Y.
Am J Med Genet A 146A(4):488-91. Review. 2008