Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma [13]

New England Journal of Medicine

Volumn 354, Issue 25, 2006, Pages 2729-2731

  Bausch, Birke ^a   Borozdin, Wiktor ^a   Neumann, Hartmut P H ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET; VON HIPPEL LINDAU PROTEIN;

DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENETIC TRAIT; HUMAN; LETTER; MUTATIONAL ANALYSIS; NEUROFIBROMATOSIS; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SIPPLE SYNDROME; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; GENES, NEUROFIBROMATOSIS 1; GERM-LINE MUTATION; HEAD AND NECK NEOPLASMS; HETEROZYGOTE; HUMANS; MIDDLE AGED; NEUROFIBROMATOSIS 1; PARAGANGLIOMA; PHEOCHROMOCYTOMA; REGISTRIES;

EID: 33745275854     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc066006     Document Type: Letter

References (5)

1. Riccardi VM. Von Recklinghausen neurofibromatosis. N Engl J Med 1981;305:1617-27.
2. Dluhy RG. Pheochromocytoma - death of an axiom. N Engl J Med 2002;346:1486-8.
3. Luijten M, Wang Y, Smith BT, et al. Mechanism of spreading of the highly related neurofibromatosis type 1 (NF1) pseudogenes on chromosomes 2, 14 and 22. Eur J Hum Genet 2000;8:209-14.
4. Neumann HP, Pawlu C, Peczkowska M, et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004;292:943-51. [Erratum, JAMA 2004;292:1686.]
5. Borozdin W, Boehm D, Leipoldt M, et al. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet 2004;41(9):e113.