1. Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT (1997) Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease. Am J Med Genet 71: 489–493.
2. Bannayan GA (1971) Lipomatosis, angiomatosis, and macrocephaly: A previously undescribed congenital syndrome. Arch Patol 92: 1–5.
3. Boccone L, Dessì V, Serra G, Zibordi F, Loudianos G (2008) Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. Am J Med Genet A 146: 257–260.
4. Carethers JM, Furnari FB, Zigman AF, Lavine JE, Jones MC, Graham GE, Teebi AS, Huang HJ, Ha HT, Chauhan DP, Chang CL, Cavenee WK, Boland CR (1998) Absence of PTEN/MMAC1 germ-line mutations in sporadic Bannayan-Rilet-Ruvalcaba syndrome. Cancer Res 58: 2724–2726.
5. Christian CL, Fleisher DR, Feldman EJ, Pepkowitz SH, Jafolla AK, Diliberti JH, Graham JM Jr (1991) Lipid storage myopathy associated with Ruvalcaba-Myhre-Smith syndrome: Treatment with carnitine. Clin Res 39: 64A.