REFERENCES
- DiLiberti JH. Inherited macrocephaly-hamartoma syndromes. Am J
Med Genet 1998: 79: 284-290
- Gorlin RJ, Cohen MM, Condon LM, Burke BA.
Bannyan-Riley-Ruvalcaba sydrome. Am J Med Gent 1992: 44:
307-314
- Hampel H, Peltomaki P. Hereditary colorectal cancer: risk
assessment and management. Clin Genet 2000: 57: 89-97
- International Cowden's Sydrome Consortium. Operational
Criteria for the Diagnosis of CS. Daly, M. NCCN practice
guidelines: Genetics/familial high-risk cancer screening. Oncology
1999; 13:161-86
- Jones, Kenneth Lyons. Smith's Recognizable Patterns of Human
Malformation. 5th Ed., WB Sanders Co. 1997: 522-523
- Julide Tok Celebi, Hui C Tsou, Fei Fei Chen, Hong Zhang, Xiao
Li Ping, Mark G Lebwohl, Jeffery Kezis, Monica Peacocke.
Phenotypic findings of Cowden syndrome and Bannyan-Zonana syndrome
in a family associated with a single germline mutation in PTEN. J
Med Genet 1999: 36: 360-364
- Lindon, Noralane M., Green, Mark H. Mayo Family Cancer
Program. The Concise Handbook of Family Cancer Syndromes. Journ.
Nat. Cancer Instituite. 90:14: 1051-1052
- Marsh DJ, Kum JB, Lunetta KL et al. PTEN mutation spectrum and
genotype-phenotype correlations in Bannyan-Riley-Ruvalcaba
syndrome suggest a single entity with cowden syndrome. Hum Mol.
Genet 1999: 8: 1461-1472
- Eng C, Peacocke M. PTEN and inherited
hamartoma-cancer-syndromes. Nat Genet 1998: 19: 233
- Lloyd KM, Denis M. Cowden's disease: A Possible new symptom
complex with multiple system involvement. Ann Intern Med 1963:
58:136-142.
- Fargnoli MC, Orlow SJ, Semel-Concepcion J, Bolognia JL.
Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba
phenotype. J Med Genet 1998: 35:0-3.
- Marsh DJ, Coulon V, Lunetta KL, et. al. Mutation spectrum and
genotype-phenotype analysis in Cowden disease and Bannayan-Zonana
syndrome, two hamartoma syndromes with germline PTEN mutations.
Hum Mol Genet 1998: 7(3):507-15.
- Marsh DJ, Dahia PL, Zheng Z, et. al. Germline mutations in
PTEN are present in Bannayan-Zonana syndrome. Nat Genet 1997:
16(4): 333-4.
- Eng C. Will the real Cowden syndrome please stand up: revised
diagnostic criteria. J Med Genet 2000: 37(11): 828-30.
- Eng, C, Parsons, R. 1998. Cowden Syndrome In: Vogelstein, B nd
Kinzler, KW editors. The Genetic Basis of Human Cancer. New York:
McGraw-Hill. p 519-525.
CREDITS
Written by:
Sarah Burton, University of Iowa Health Care
Joy Larsen Haidle, MS, C.G.C, genetic counselor
Heather Hampel, MS, CGC, genetic counselor, Clinical Cancer
Genetics Program and Division of Human Genetics, The Ohio State
University
Charis Eng, MD, PhD, director, Clinical Cancer Genetics
Program and Division of Human Genetics, The Ohio State University
Illustrations by Terry Demmer
Special Thanks to:
University of Iowa Health Care Division of Medical
Genetics
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