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

Author:

Burkitt Wright Emma MM,Sach Emma,Sharif Saba,Quarrell Oliver,Carroll Thomas,Whitehouse Richard W,Upadhyaya Meena,Huson Susan M,Evans D Gareth R

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference26 articles.

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2. An analysis of variation in expression of neurofibromatosis (NF) type 1 (NF1): evidence for modifying genes;Easton;Am J Hum Genet,1993

3. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1;Ferner;J Med Genet,2007

4. Clinical sensitivity and specificity of multiple T2-hyperintensities on brain magnetic resonance imaging in diagnosis of neurofibromatosis type 1 in children: diagnostic accuracy study;Sabol;Croat Med J,2011

5. Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients;Kayes;Am J Hum Genet,1994

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