The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma

American Journal of Medical Genetics, Part A

Volumn 140 A, Issue 7, 2006, Pages 685-690

  Abbott, Mary Alice ^a   Nathanson, Katherine L ^b   Nightingale, Simon ^c   Maher, Eamonn R ^d   Greenstein, Robert M ^a  

^a UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c PRINCESS ROYAL HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Germline mutation; Hemangioblastoma; Pheochromocytoma; Von Hippel Lindau disease

Indexed keywords

LEUCINE; VALINE; VHL PROTEIN, HUMAN; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENE; GERM LINE; HUMAN; MALE; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SCHOOL CHILD; VHL GENE; VON HIPPEL LINDAU DISEASE; ADRENAL TUMOR; CASE REPORT; CHILD; GENETICS; GENOTYPE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; GERM-LINE MUTATION; HIPPEL-LINDAU DISEASE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PHEOCHROMOCYTOMA; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 33646949013     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31116     Document Type: Article

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