Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis-Reference-Cited by-同舟云学术

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

Published:2013-06-28 Issue:9 Volume:50 Page:606-613
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

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.

1. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus;Viskochil;Cell,1990

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

Cited by 29 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Unusual Nodular Aggregation in the Retroauricular Area;Indian Journal of Postgraduate Dermatology;2024-08-23

2. Lived experiences of neurofibromatosis type 1 patients: Social life, stigma, and intervention strategies;Journal of Health Psychology;2023-11-06

3. [Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children;Actas Dermo-Sifiliográficas;2023-03

4. Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia;Actas Dermo-Sifiliográficas;2023-03

5. Neurofibromatose;Orthopädie und Unfallchirurgie;2023