Publications:

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

Burkitt Wright, Emma Mm EM; Sach, Emma E; Sharif, Saba S; Quarrell, Oliver O; Carroll, Thomas T; Whitehouse, Richard W RW; Upadhyaya, Meena M; Huson, Susan M SM; Evans, D Gareth R DG

Publication Date: 2013-09

Variant appearance in text: NF1: 6427+2T>G

PubMed Link: 23812910

Variant Present in the following documents:

• Main text
• jmedgenet-2013-101648.pdf

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