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J. Strauchen (2002)
Germ-line mutations in nonsyndromic pheochromocytoma.The New England journal of medicine, 347 11
E. Maher, C. Eng (2002)
The pressure rises: update on the genetics of phaeochromocytoma.Human molecular genetics, 11 20
The von Hippel-Lindau gene: Turning discovery into therapy
(1991)
von Hippel-Lindau diseaseThe Lancet, 337
E. Maher (2006)
Genetics of phaeochromocytoma.British medical bulletin, 79-80
(2005)
VHL Family Alliance
J. Corcoran, C. Bird, L. Side, K. Lakhoo, F. Ryan (2008)
Diagnosis at dusk: Malignant hypertension and phaeochromocytoma in a 6‐year‐old girlEmergency Medicine Australasia, 20
B. Zbar, T. Kishida, Fan Chen, L. Schmidt, E. Maher, F. Richards, P. Crossey, A. Webster, N. Affara, M. Ferguson-Smith, H. Brauch, D. Glavač, H. Neumann, S. Tisherman, J. Mulvihill, D. Gross, T. Shuin, J. Whaley, B. Seizinger, N. Kley, S. Olschwang, C. Boisson, S. Richard, C. Lips, W. Linehan, M. Lerman (1996)
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and JapanHuman Mutation, 8
F. Hes, J. Höppener, C. Lips (2003)
Pheochromocytoma in Von Hippel-Lindau DiseaseThe Journal of Clinical Endocrinology and Metabolism, 88
(1995)
Germline mutations in the von Hippel-Lindau disease (VHL) gene in Japanese VHL. Clinical Research Group for VHL in Japan.Human molecular genetics, 4 12
I. Madeira (2004)
The fourth report on the diagnosis, evaluation, and treatment of high blood pressure in children and adolescents.Pediatrics, 114 2 Suppl 4th Report
C. Béroud, D. Joly, C. Gallou, F. Staroz, M. Orfanelli, C. Junien (1998)
Software and database for the analysis of mutations in the VHL geneNucleic acids research, 26 1
(2006)
Plouin PF, on behalf of the European Network for the Study of Adrenal Tumours (ENS@T) Pheochromocytoma
Fan Chen, T. Kishida, M. Yao, T. Hustad, D. Glavač, M. Dean, J. Gnarra, M. Orcutt, F. Duh, G. Glenn, Jane Green, Y. Hsia, J. Lamiell, Hua Li, M. Wei, L. Schmidt, K. Tory, I. Kuzmin, T. Stackhouse, F. Latif, W. Linehan, M. Lerman, B. Zbar (1995)
Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotypeHuman Mutation, 5
R. Lonser, H. Kim, J. Butman, A. Vortmeyer, D. Choo, E. Oldfield (2004)
Tumors of the endolymphatic sac in von Hippel-Lindau disease.The New England journal of medicine, 350 24
K. Ong, E. Woodward, Pip Killick, C. Lim, F. Macdonald, E. Maher (2004)
Genotype–phenotype correlations in von Hippel‐Lindau diseaseHuman Mutation, 28
Charis Eng, P. Crossey, Lois Mulligan, C. Healey, Carol Houghton, A. Prowse, Shern Chew, P. Dahia, Jeffrey O'Riordan, Sergio Toledo, Darrin Smith, Eamonn Maher, J. BruceA, Ponder (1995)
Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas.Journal of Medical Genetics, 32
A. Gimenez-Roqueplo, H. Lehnert, M. Mannelli, H. Neumann, G. Opocher, E. Maher, P. Plouin (2006)
Phaeochromocytoma, new genes and screening strategiesClinical Endocrinology, 65
Paul A.Crossey, Frances M.Richards, K. Foster, Jane reen, A. Prowse, Farida Latlf, M. Lerman, B. Zbar, Nabeel Atfara, M. Ferguson-Smith, E. Maher (1994)
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype.Human molecular genetics, 3 8
Clark (2008)
Oct 1. The von Hippel-Lindau gene: Turning discovery into therapyCancer, 113
Pheochromocytomas are rare tumors of the adrenal gland occurring sporadically or as part of familial cancer syndromes. Here we report on the case of a pheochromocytoma due to the germline missense mutation c.491A>G (Q164R) in exon 3 of the von Hippel–Lindau gene in a girl as young as 2.75 years. Extended analyses of her relatives showed that the mutation occurred de novo in the patient's father who was subsequently diagnosed with bilateral pheochromocytomas and a retinal angioma. To the best of our knowledge, this is the youngest patient presenting with pheochromocytoma so far described in the literature. The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age. © 2010 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jul 1, 2010
Keywords: ; ; ;
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