Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1425-1431

  Vanneste, Rachel ^a   Smith, Erika ^b   Graham, Gail ^b,c  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c UNIVERSITY OF OTTAWA   (Canada)

Author keywords

ANRIL; CDKN2A; FAMMM; Melanoma; Nervous system tumors; Neurofibroma; P14; P16

Indexed keywords

ANRIL; CYCLIN DEPENDENT KINASE INHIBITOR 2A; LONG UNTRANSLATED RNA; PROTEIN P14; PROTEIN P16; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYCLIN DEPENDENT KINASE INHIBITOR 2A GENE; EXON; FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA SYNDROME; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; MEDICAL HISTORY; MUTATIONAL ANALYSIS; NEUROFIBROMA; NEUROFIBROMATOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOLITARY SPINAL NEUROFIBROMA; TUMOR BIOPSY; DIFFERENTIAL DIAGNOSIS; GENETICS; MELANOMA; NEUROFIBROMATOSES; NUCLEOTIDE SEQUENCE; PEDIGREE; SKIN NEOPLASMS; SPINAL NEOPLASMS;

ADULT; BASE SEQUENCE; CYCLIN-DEPENDENT KINASE INHIBITOR P16; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MELANOMA; NEUROFIBROMATOSES; PEDIGREE; SEQUENCE DELETION; SKIN NEOPLASMS; SPINAL NEOPLASMS;

EID: 84878214230     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35884     Document Type: Article

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