Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

Journal of Medical Genetics

Volumn 50, Issue 9, 2013, Pages 606-613

  Wright, Emma M M Burkitt ^a,b   Sach, Emma ^b   Sharif, Saba ^c   Quarrell, Oliver ^d   Carroll, Thomas ^e   Whitehouse, Richard W ^f   Upadhyaya, Meena ^g   Huson, Susan M ^a,b   Evans, D Gareth R ^a,b  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^f MANCHESTER ROYAL INFIRMARY   (United Kingdom)

^g CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMITRIPTYLINE; CELL DNA; GABAPENTIN; GENOMIC DNA; NEUROFIBROMIN; PREGABALIN; TRAMADOL;

ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; LEG PAIN; LYMPHOCYTE; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NEUROFIBROMATOSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PAIN; PHENOTYPE; PRIORITY JOURNAL; SPINAL NEUROFIBROMATOSIS; SPINE DISEASE;

CLINICAL GENETICS; DERMATOLOGY; GENETICS; OTHER NEUROLOGY;

ADULT; AGED; CAFE-AU-LAIT SPOTS; CHILD, PRESCHOOL; FEMALE; GENES, NEUROFIBROMATOSIS 1; HUMANS; MALE; MIDDLE AGED; MUTATION; NEUROFIBROMATOSIS 1; PEDIGREE; SPINAL DISEASES;

EID: 84883192699     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-101648     Document Type: Article

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