Cutaneous manifestations of hereditary syndromes

Journal of the American Academy of Dermatology

Volumn 54, Issue 3, 2006, Pages 505-506

  Heymann, Warren R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

FUMARATE HYDRATASE; SUCCINATE DEHYDROGENASE;

BIRT HOGG DUBE SYNDROME; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER; HUMAN; LEIOMYOMA; MULTIPLE ENDOCRINE NEOPLASIA; NOTE; PRIORITY JOURNAL; SKIN MANIFESTATION;

EID: 32644451688     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2005.11.1045     Document Type: Article

References (8)

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7. R. Lehtonen, M. Kiuru, S. Vanharanta, J. Sjöberg, L.-M. Aaltonen, and K. Aittomaki Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors Am J Pathol 164 2004 17 22
8. P.J. Pollard, J.J. Briere, N.A. Alam, J. Barwell, E. Barclay, and N.C. Wortham Accumulation of Krebs cycle intermediates and over-expression of HIF1 alpha in tumours which result from germline FH and SDH mutations Hum Mol Genet 14 2005 2231 2239